F7CXG1 · F7CXG1_MOUSE
- ProteinNebulin-related anchoring protein
- GeneNrap
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids387 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs244325671 | 6 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: NC_000085.7:g.56368283C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56368283C>T Locations: - p.Gly6Arg (Ensembl:ENSMUST00000169099) - c.16G>A (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389557367 | 21 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.56367587C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.56367587C>A Locations: - p.Glu21Ter (Ensembl:ENSMUST00000169099) - c.61G>T (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389557329 | 38 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.56367535G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56367535G>A Locations: - p.Pro38Leu (Ensembl:ENSMUST00000169099) - c.113C>T (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs244428779 | 125 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.56362800C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56362800C>A Locations: - p.Ser125Ile (Ensembl:ENSMUST00000169099) - c.374G>T (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389559732 | 135 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.56361322T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56361322T>G Locations: - p.Thr135Pro (Ensembl:ENSMUST00000169099) - c.403A>C (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs251249545 | 149 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000085.7:g.56361280G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56361280G>A Locations: - p.Arg149Cys (Ensembl:ENSMUST00000169099) - c.445C>T (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389559720 | 164 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000085.7:g.56360356C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56360356C>G Locations: - p.Ala164Pro (Ensembl:ENSMUST00000169099) - c.490G>C (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389548138 | 167 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000085.7:g.56360347C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56360347C>T Locations: - p.Ala167Thr (Ensembl:ENSMUST00000169099) - c.499G>A (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs30374940 | 179 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000085.7:g.56360310A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56360310A>G Locations: - p.Leu179Pro (Ensembl:ENSMUST00000169099) - c.536T>C (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs47129476 | 191 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000085.7:g.56360274C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56360274C>T Locations: - p.Arg191Lys (Ensembl:ENSMUST00000169099) - c.572G>A (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389563403 | 193 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000085.7:g.56360269C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56360269C>T Locations: - p.Val193Ile (Ensembl:ENSMUST00000169099) - c.577G>A (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3409393688 | 199 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000085.7:g.56354900G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56354900G>T Locations: - p.Asn199Lys (Ensembl:ENSMUST00000169099) - c.597C>A (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3409340775 | 200 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.56354899A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56354899A>T Locations: - p.Tyr200Asn (Ensembl:ENSMUST00000169099) - c.598T>A (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs49428559 | 207 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.93) Somatic: No Accession: NC_000085.7:g.56354878T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56354878T>G Locations: - p.Met207Leu (Ensembl:ENSMUST00000169099) - c.619A>C (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389540658 | 220 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.56354839G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.56354839G>A Locations: - p.Gln220Ter (Ensembl:ENSMUST00000169099) - c.658C>T (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389563362 | 237 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.56353908G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.56353908G>C Locations: - p.Tyr237Ter (Ensembl:ENSMUST00000169099) - c.711C>G (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3409306530 | 262-263 | LF>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.56353833_56353834insTAC Codon: TTC/TAGTTC Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.56353833_56353834insTAC Locations: - p.Leu262_Phe263insTer (Ensembl:ENSMUST00000169099) - c.786_787insAGT (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389455539 | 272 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.56352823A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56352823A>G Locations: - p.Trp272Arg (Ensembl:ENSMUST00000169099) - c.814T>C (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs255825945 | 282 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000085.7:g.56352793T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56352793T>A Locations: - p.Met282Leu (Ensembl:ENSMUST00000169099) - c.844A>T (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389540711 | 283 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000085.7:g.56352788C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56352788C>A Locations: - p.Lys283Asn (Ensembl:ENSMUST00000169099) - c.849G>T (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389503854 | 302 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000085.7:g.56352459C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56352459C>T Locations: - p.Val302Ile (Ensembl:ENSMUST00000169099) - c.904G>A (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389548130 | 311 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000085.7:g.56352432T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56352432T>A Locations: - p.Met311Leu (Ensembl:ENSMUST00000169099) - c.931A>T (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: | |||||||
rs3389559446 | 323 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000085.7:g.56352396G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.56352396G>C Locations: - p.Leu323Val (Ensembl:ENSMUST00000169099) - c.967C>G (Ensembl:ENSMUST00000169099) Source type: large scale study Cross-references: |