O08900 · IKZF3_MOUSE
- ProteinZinc finger protein Aiolos
- GeneIkzf3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids507 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389194019 | 7 | T>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.98409543_98409544insACCTCAACCATCACTCA Codon: -/TGAGTGATGGTTGAGGT Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.98409543_98409544insACCTCAACCATCACTCA Locations: - p.Thr7Ter (Ensembl:ENSMUST00000103141) - c.18_19insTGAGTGATGGTTGAGGT (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389159917 | 7 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.91) Somatic: No Accession: NC_000077.7:g.98409542G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98409542G>C Locations: - p.Thr7Ser (Ensembl:ENSMUST00000103141) - c.20C>G (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389198856 | 42 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: NC_000077.7:g.98407715C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98407715C>T Locations: - p.Ser42Asn (Ensembl:ENSMUST00000103141) - c.125G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389206868 | 45 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: NC_000077.7:g.98407707C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98407707C>T Locations: - p.Ala45Thr (Ensembl:ENSMUST00000103141) - c.133G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs243865925 | 47 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000077.7:g.98407700G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98407700G>T Locations: - p.Ala47Asp (Ensembl:ENSMUST00000103141) - c.140C>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3402281971 | 59 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000077.7:g.98381404T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98381404T>G Locations: - p.Lys59Gln (Ensembl:ENSMUST00000103141) - c.175A>C (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389194027 | 77 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000077.7:g.98381349A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98381349A>T Locations: - p.Met77Lys (Ensembl:ENSMUST00000103141) - c.230T>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389201627 | 86 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000077.7:g.98381323G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98381323G>A Locations: - p.Pro86Ser (Ensembl:ENSMUST00000103141) - c.256C>T (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs27042630 | 88 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000077.7:g.98381316C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98381316C>T Locations: - p.Ser88Asn (Ensembl:ENSMUST00000103141) - c.263G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389192687 | 103 | R>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000077.7:g.98381271C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98381271C>G Locations: - p.Arg103Thr (Ensembl:ENSMUST00000103141) - c.308G>C (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs27042631 | 105 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000077.7:g.98381266C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98381266C>T Locations: - p.Val105Met (Ensembl:ENSMUST00000103141) - c.313G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs27042632 | 114 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.98381239C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98381239C>T Locations: - p.Gly114Ser (Ensembl:ENSMUST00000103141) - c.340G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs27042634 | 136 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000077.7:g.98381171C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98381171C>A Locations: - p.Lys136Asn (Ensembl:ENSMUST00000103141) - c.408G>T (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3402845994 | 168 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.98379764G>C Codon: ACG/AGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98379764G>C Locations: - p.Thr168Arg (Ensembl:ENSMUST00000103141) - c.503C>G (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3411747108 | 174 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000077.7:g.98379745C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98379745C>A Locations: - p.Lys174Asn (Ensembl:ENSMUST00000103141) - c.522G>T (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs1132130856 | 236 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000077.7:g.98367869G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98367869G>T Locations: - p.Ala236Glu (Ensembl:ENSMUST00000103141) - c.707C>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3548978063 | 278 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.98358504G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358504G>A Locations: - p.Arg278Trp (Ensembl:ENSMUST00000103141) - c.832C>T (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs234144536 | 288 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.98358474C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358474C>T Locations: - p.Gly288Ser (Ensembl:ENSMUST00000103141) - c.862G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389194028 | 292 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.98358462C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358462C>T Locations: - p.Glu292Lys (Ensembl:ENSMUST00000103141) - c.874G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs27042684 | 301 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000077.7:g.98358434C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358434C>T Locations: - p.Arg301Gln (Ensembl:ENSMUST00000103141) - c.902G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389206928 | 302 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000077.7:g.98358430C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358430C>T Locations: - p.Met302Ile (Ensembl:ENSMUST00000103141) - c.906G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389173640 | 310 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.98358407G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358407G>A Locations: - p.Ala310Val (Ensembl:ENSMUST00000103141) - c.929C>T (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389173594 | 315 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.98358393C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358393C>T Locations: - p.Gly315Arg (Ensembl:ENSMUST00000103141) - c.943G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389133841 | 320 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000077.7:g.98358377C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358377C>T Locations: - p.Arg320His (Ensembl:ENSMUST00000103141) - c.959G>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389159977 | 326 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.98358359G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358359G>A Locations: - p.Pro326Leu (Ensembl:ENSMUST00000103141) - c.977C>T (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389213437 | 349 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000077.7:g.98358291C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358291C>G Locations: - p.Asp349His (Ensembl:ENSMUST00000103141) - c.1045G>C (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389213437 | 349 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000077.7:g.98358291C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358291C>A Locations: - p.Asp349Tyr (Ensembl:ENSMUST00000103141) - c.1045G>T (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389133870 | 367 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000077.7:g.98358237C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98358237C>G Locations: - p.Glu367Gln (Ensembl:ENSMUST00000103141) - c.1099G>C (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389213455 | 446 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000077.7:g.98357999A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98357999A>G Locations: - p.Val446Ala (Ensembl:ENSMUST00000103141) - c.1337T>C (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs3389186507 | 454 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.98357976G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98357976G>T Locations: - p.His454Asn (Ensembl:ENSMUST00000103141) - c.1360C>A (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: | |||||||
rs253459763 | 506 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000077.7:g.98357818C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.98357818C>A Locations: - p.Leu506Phe (Ensembl:ENSMUST00000103141) - c.1518G>T (Ensembl:ENSMUST00000103141) Source type: large scale study Cross-references: |