Q80TY0 · FNBP1_MOUSE
- ProteinFormin-binding protein 1
- GeneFnbp1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids616 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388544983 | 18 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30995341G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30995341G>A Locations: - p.Thr18Ile (Ensembl:ENSMUST00000113560) - c.53C>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540219143 | 26 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30995318C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30995318C>T Locations: - p.Glu26Lys (Ensembl:ENSMUST00000113560) - c.76G>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214573 | 28 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.30995310G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.30995310G>C Locations: - p.Tyr28Ter (Ensembl:ENSMUST00000113560) - c.84C>G (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214342 | 34 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30995293T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30995293T>G Locations: - p.Glu34Ala (Ensembl:ENSMUST00000113560) - c.101A>C (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214342 | 34 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30995293T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30995293T>A Locations: - p.Glu34Val (Ensembl:ENSMUST00000113560) - c.101A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214420 | 36 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30995287G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30995287G>A Locations: - p.Thr36Met (Ensembl:ENSMUST00000113560) - c.107C>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388540711 | 38 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30995282T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30995282T>A Locations: - p.Ile38Phe (Ensembl:ENSMUST00000113560) - c.112A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214598 | 43 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30995266G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30995266G>T Locations: - p.Ala43Asp (Ensembl:ENSMUST00000113560) - c.128C>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388542884 | 52 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30987148T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30987148T>G Locations: - p.Lys52Thr (Ensembl:ENSMUST00000113560) - c.155A>C (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388540768 | 60 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30987124T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30987124T>A Locations: - p.Lys60Met (Ensembl:ENSMUST00000113560) - c.179A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388543158 | 92 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30986109T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30986109T>C Locations: - p.Glu92Gly (Ensembl:ENSMUST00000113560) - c.275A>G (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388538952 | 102 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30986079A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30986079A>G Locations: - p.Leu102Pro (Ensembl:ENSMUST00000113560) - c.305T>C (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388545666 | 111 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.30986053G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.30986053G>A Locations: - p.Gln111Ter (Ensembl:ENSMUST00000113560) - c.331C>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388540734 | 169 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30972994C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30972994C>T Locations: - p.Val169Met (Ensembl:ENSMUST00000113560) - c.505G>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540242731 | 177 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30949012C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30949012C>A Locations: - p.Gln177His (Ensembl:ENSMUST00000113560) - c.531G>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214475 | 179 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30949008G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30949008G>A Locations: - p.Arg179Cys (Ensembl:ENSMUST00000113560) - c.535C>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540219152 | 185 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30948989T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30948989T>G Locations: - p.Asp185Ala (Ensembl:ENSMUST00000113560) - c.554A>C (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540220454 | 188 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000068.8:g.30948980G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30948980G>C Locations: - p.Ala188Gly (Ensembl:ENSMUST00000113560) - c.563C>G (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540227388 | 189 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30948977T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30948977T>C Locations: - p.Asp189Gly (Ensembl:ENSMUST00000113560) - c.566A>G (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540243112 | 191 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30948971G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30948971G>A Locations: - p.Ser191Phe (Ensembl:ENSMUST00000113560) - c.572C>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540223780 | 207 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.30948924T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30948924T>A Locations: - p.Thr207Ser (Ensembl:ENSMUST00000113560) - c.619A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3391438399 | 208 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30948921G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30948921G>T Locations: - p.His208Asn (Ensembl:ENSMUST00000113560) - c.622C>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214405 | 209 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30948918T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30948918T>A Locations: - p.Ile209Phe (Ensembl:ENSMUST00000113560) - c.625A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214639 | 209 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.30948916G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30948916G>C Locations: - p.Ile209Met (Ensembl:ENSMUST00000113560) - c.627C>G (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540219239 | 210 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30948914G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30948914G>A Locations: - p.Pro210Leu (Ensembl:ENSMUST00000113560) - c.629C>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540215067 | 223 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30945561C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30945561C>T Locations: - p.Arg223Gln (Ensembl:ENSMUST00000113560) - c.668G>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540223942 | 230 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30945541A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30945541A>G Locations: - p.Ser230Pro (Ensembl:ENSMUST00000113560) - c.688T>C (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214385 | 232 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30945533C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30945533C>A Locations: - p.Lys232Asn (Ensembl:ENSMUST00000113560) - c.696G>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388538947 | 234 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.30945527G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.30945527G>T Locations: - p.Tyr234Ter (Ensembl:ENSMUST00000113560) - c.702C>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388542882 | 235 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30945525G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30945525G>A Locations: - p.Ala235Val (Ensembl:ENSMUST00000113560) - c.704C>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540214431 | 243 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30945502G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30945502G>T Locations: - p.Pro243Thr (Ensembl:ENSMUST00000113560) - c.727C>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388545712 | 265 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30944227A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30944227A>G Locations: - p.Ser265Pro (Ensembl:ENSMUST00000113560) - c.793T>C (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388541939 | 270 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30944210T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30944210T>A Locations: - p.Glu270Asp (Ensembl:ENSMUST00000113560) - c.810A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388541991 | 282 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30944174A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30944174A>C Locations: - p.Ile282Met (Ensembl:ENSMUST00000113560) - c.846T>G (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388540774 | 311 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30944087T>A Codon: AGA/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30944087T>A Locations: - p.Arg311Ser (Ensembl:ENSMUST00000113560) - c.933A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388545663 | 325 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30944046T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30944046T>A Locations: - p.Lys325Met (Ensembl:ENSMUST00000113560) - c.974A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3540227253 | 337 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.30943154T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30943154T>G Locations: - p.His337Pro (Ensembl:ENSMUST00000113560) - c.1010A>C (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs261027007 | 339 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30943149G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30943149G>A Locations: - p.Pro339Ser (Ensembl:ENSMUST00000113560) - c.1015C>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3391365628 | 434 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30927291G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30927291G>C Locations: - p.Ile434Met (Ensembl:ENSMUST00000113560) - c.1302C>G (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388543148 | 464 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.30927203T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30927203T>A Locations: - p.Ile464Leu (Ensembl:ENSMUST00000113560) - c.1390A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388536428 | 554 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30926153C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30926153C>T Locations: - p.Cys554Tyr (Ensembl:ENSMUST00000113560) - c.1661G>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388541897 | 578 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30923153C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30923153C>T Locations: - p.Val578Met (Ensembl:ENSMUST00000113560) - c.1732G>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3388541866 | 605 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.30923072C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30923072C>T Locations: - p.Val605Ile (Ensembl:ENSMUST00000113560) - c.1813G>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs27186035 | 608 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.30923062T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30923062T>A Locations: - p.Tyr608Phe (Ensembl:ENSMUST00000113560) - c.1823A>T (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: | |||||||
rs3400428521 | 613 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.30923048C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.30923048C>T Locations: - p.Ala613Thr (Ensembl:ENSMUST00000113560) - c.1837G>A (Ensembl:ENSMUST00000113560) Source type: large scale study Cross-references: |