P08730 · K1C13_MOUSE
- ProteinKeratin, type I cytoskeletal 13
- GeneKrt13
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids437 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3402576329 | 6 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000077.7:g.100012306G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100012306G>C Locations: - p.Gln6Glu (Ensembl:ENSMUST00000007275) - c.16C>G (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3402697661 | 7 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000077.7:g.100012302C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100012302C>G Locations: - p.Ser7Thr (Ensembl:ENSMUST00000007275) - c.20G>C (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389200750 | 141 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000077.7:g.100011899C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100011899C>A Locations: - p.Glu141Asp (Ensembl:ENSMUST00000007275) - c.423G>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3402697654 | 157 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.100011852T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100011852T>A Locations: - p.Lys157Met (Ensembl:ENSMUST00000007275) - c.470A>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs249646442 | 169 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.91) Somatic: No Accession: NC_000077.7:g.100010848T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100010848T>C Locations: - p.Ile169Val (Ensembl:ENSMUST00000007275) - c.505A>G (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389205525 | 178 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.100010820G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100010820G>A Locations: - p.Ala178Val (Ensembl:ENSMUST00000007275) - c.533C>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389172330 | 195 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.100010575C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100010575C>A Locations: - p.Ser195Ile (Ensembl:ENSMUST00000007275) - c.584G>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389136748 | 205 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.100010546T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100010546T>C Locations: - p.Arg205Gly (Ensembl:ENSMUST00000007275) - c.613A>G (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs584022023 | 239 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000077.7:g.100010263C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100010263C>A Locations: - p.Met239Ile (Ensembl:ENSMUST00000007275) - c.717G>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389211469 | 251 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.100010228T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100010228T>A Locations: - p.Asn251Ile (Ensembl:ENSMUST00000007275) - c.752A>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3548894527 | 264 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000077.7:g.100010190G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100010190G>T Locations: - p.Arg264Ser (Ensembl:ENSMUST00000007275) - c.790C>A (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3549036864 | 278 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.100010148C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100010148C>T Locations: - p.Glu278Lys (Ensembl:ENSMUST00000007275) - c.832G>A (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs27057656 | 290 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000077.7:g.100010112T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100010112T>C Locations: - p.Thr290Ala (Ensembl:ENSMUST00000007275) - c.868A>G (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389176505 | 310 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.100009940T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100009940T>A Locations: - p.Lys310Met (Ensembl:ENSMUST00000007275) - c.929A>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3402760829 | 319 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.100009913G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100009913G>T Locations: - p.Thr319Lys (Ensembl:ENSMUST00000007275) - c.956C>A (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs27057659 | 341 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000077.7:g.100009758A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100009758A>C Locations: - p.Leu341Val (Ensembl:ENSMUST00000007275) - c.1021T>G (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389204111 | 360 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000077.7:g.100009701T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100009701T>C Locations: - p.Ser360Gly (Ensembl:ENSMUST00000007275) - c.1078A>G (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389176430 | 364 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000077.7:g.100009688G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100009688G>A Locations: - p.Ala364Val (Ensembl:ENSMUST00000007275) - c.1091C>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389215159 | 395 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.100009595G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100009595G>A Locations: - p.Ala395Val (Ensembl:ENSMUST00000007275) - c.1184C>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs3389196341 | 410 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000077.7:g.100008823C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100008823C>T Locations: - p.Gly410Asp (Ensembl:ENSMUST00000007275) - c.1229G>A (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs1132669784 | 435 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.100008432C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100008432C>A Locations: - p.Arg435Leu (Ensembl:ENSMUST00000007275) - c.1304G>T (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: | |||||||
rs1132669784 | 435 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000077.7:g.100008432C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.100008432C>T Locations: - p.Arg435Gln (Ensembl:ENSMUST00000007275) - c.1304G>A (Ensembl:ENSMUST00000007275) Source type: large scale study Cross-references: |