A2RSX7 · TYW5_MOUSE
- ProteintRNA wybutosine-synthesizing protein 5
- GeneTyw5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids315 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs37893720 | 5 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000067.7:g.57445607C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57445607C>T Locations: - p.Arg5His (Ensembl:ENSMUST00000162686) - c.14G>A (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388469234 | 22 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000067.7:g.57445557G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57445557G>A Locations: - p.His22Tyr (Ensembl:ENSMUST00000162686) - c.64C>T (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3390008827 | 59 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.57440584T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57440584T>A Locations: - p.Lys59Asn (Ensembl:ENSMUST00000162686) - c.177A>T (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3389987057 | 60 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.57440583T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57440583T>A Locations: - p.Ile60Phe (Ensembl:ENSMUST00000162686) - c.178A>T (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388469479 | 81 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000067.7:g.57435948G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57435948G>T Locations: - p.Pro81Thr (Ensembl:ENSMUST00000162686) - c.241C>A (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs266004202 | 102 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000067.7:g.57433250C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57433250C>T Locations: - p.Asp102Asn (Ensembl:ENSMUST00000162686) - c.304G>A (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388471368 | 241 | E>V | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.57427881_57427882insACCTCAACCATCACTCA Codon: GAG/GTGAGTGATGGTTGAGGTAG Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.57427881_57427882insACCTCAACCATCACTCA Locations: - p.Glu241ValfsTer5 (Ensembl:ENSMUST00000162686) - c.721_722insTGAGTGATGGTTGAGGT (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388471586 | 242 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.57427878A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57427878A>C Locations: - p.Phe242Cys (Ensembl:ENSMUST00000162686) - c.725T>G (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388469231 | 242 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.57427879A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57427879A>T Locations: - p.Phe242Ile (Ensembl:ENSMUST00000162686) - c.724T>A (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388473203 | 255 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000067.7:g.57427839G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57427839G>A Locations: - p.Ser255Leu (Ensembl:ENSMUST00000162686) - c.764C>T (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388469829 | 267 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.57427804T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57427804T>C Locations: - p.Lys267Glu (Ensembl:ENSMUST00000162686) - c.799A>G (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388470688 | 271 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000067.7:g.57427791G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57427791G>A Locations: - p.Ala271Val (Ensembl:ENSMUST00000162686) - c.812C>T (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388470376 | 278 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000067.7:g.57427770A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57427770A>T Locations: - p.Ile278Asn (Ensembl:ENSMUST00000162686) - c.833T>A (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: | |||||||
rs3388470710 | 289 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.57427737A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.57427737A>G Locations: - p.Leu289Ser (Ensembl:ENSMUST00000162686) - c.866T>C (Ensembl:ENSMUST00000162686) Source type: large scale study Cross-references: |