A0A3Q1MQ87 · A0A3Q1MQ87_BOVIN
- ProteinE3 ubiquitin-protein ligase RNF8
- GeneRNF8
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids466 (go to sequence)
- Protein existenceInferred from homology
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs443259951 | 4 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037350.1:g.11245468C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245468C>T Locations: - p.Pro4Ser (Ensembl:ENSBTAT00000082469) - c.10C>T (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs447182831 | 12 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037350.1:g.11245492C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245492C>T Locations: - p.Arg12Cys (Ensembl:ENSBTAT00000082469) - c.34C>T (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs478146098 | 18 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037350.1:g.11245510T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245510T>C Locations: - p.Trp18Arg (Ensembl:ENSBTAT00000082469) - c.52T>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs445039512 | 19 | C>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037350.1:g.11245513T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245513T>G Locations: - p.Cys19Gly (Ensembl:ENSBTAT00000082469) - c.55T>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs469920870 | 22 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037350.1:g.11245523G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245523G>T Locations: - p.Arg22Leu (Ensembl:ENSBTAT00000082469) - c.65G>T (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs450177084 | 23 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_037350.1:g.11245525G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245525G>T Locations: - p.Val23Leu (Ensembl:ENSBTAT00000082469) - c.67G>T (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs435606558 | 25 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_037350.1:g.11245532T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245532T>A Locations: - p.Met25Lys (Ensembl:ENSBTAT00000082469) - c.74T>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs468652535 | 25 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_037350.1:g.11245531A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245531A>G Locations: - p.Met25Val (Ensembl:ENSBTAT00000082469) - c.73A>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs454119844 | 26 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_037350.1:g.11245536C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245536C>A Locations: - p.Asn26Lys (Ensembl:ENSBTAT00000082469) - c.78C>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs472974308 | 27 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_037350.1:g.11245537A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245537A>C Locations: - p.Thr27Pro (Ensembl:ENSBTAT00000082469) - c.79A>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs433429629 | 27 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: NC_037350.1:g.11245538C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245538C>G Locations: - p.Thr27Ser (Ensembl:ENSBTAT00000082469) - c.80C>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs451881119 | 28 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_037350.1:g.11245541A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245541A>G Locations: - p.Glu28Gly (Ensembl:ENSBTAT00000082469) - c.83A>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs476802834 | 29 | W>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037350.1:g.11245543T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245543T>G Locations: - p.Trp29Gly (Ensembl:ENSBTAT00000082469) - c.85T>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs443780012 | 34 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.96) Somatic: No Accession: NC_037350.1:g.11245560T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11245560T>G Locations: - p.Asp34Glu (Ensembl:ENSBTAT00000082469) - c.102T>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs474309673 | 89 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037350.1:g.11265745A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037350.1:g.11265745A>T Locations: - p.Arg89Ter (Ensembl:ENSBTAT00000082469) - c.265A>T (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs441265698 | 93 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_037350.1:g.11265758A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11265758A>C Locations: - p.Glu93Ala (Ensembl:ENSBTAT00000082469) - c.278A>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs459775399 | 94 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037350.1:g.11265760C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11265760C>A Locations: - p.Pro94Thr (Ensembl:ENSBTAT00000082469) - c.280C>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs478038947 | 99 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_037350.1:g.11265776C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11265776C>G Locations: - p.Ser99Cys (Ensembl:ENSBTAT00000082469) - c.296C>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs466607103 | 179 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037350.1:g.11266016T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266016T>C Locations: - p.Leu179Ser (Ensembl:ENSBTAT00000082469) - c.536T>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs478654128 | 189 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037350.1:g.11266045T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266045T>A Locations: - p.Ser189Thr (Ensembl:ENSBTAT00000082469) - c.565T>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs445196476 | 222 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.61) Somatic: No Accession: NC_037350.1:g.11266144A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266144A>G Locations: - p.Asn222Asp (Ensembl:ENSBTAT00000082469) - c.664A>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs382658754 | 233 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037350.1:g.11266178G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266178G>A Locations: - p.Arg233His (Ensembl:ENSBTAT00000082469) - c.698G>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs380342456 | 265 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037350.1:g.11266275G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266275G>C Locations: - p.Met265Ile (Ensembl:ENSBTAT00000082469) - c.795G>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs463933174 | 278 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_037350.1:g.11266312C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266312C>A Locations: - p.Gln278Lys (Ensembl:ENSBTAT00000082469) - c.832C>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs482285622 | 279 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_037350.1:g.11266315A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266315A>C Locations: - p.Thr279Pro (Ensembl:ENSBTAT00000082469) - c.835A>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs467961628 | 295 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037350.1:g.11266364A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266364A>C Locations: - p.Gln295Pro (Ensembl:ENSBTAT00000082469) - c.884A>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs465040198 | 300 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037350.1:g.11266380G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266380G>T Locations: - p.Gln300His (Ensembl:ENSBTAT00000082469) - c.900G>T (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs446569436 | 300 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037350.1:g.11266378C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266378C>A Locations: - p.Gln300Lys (Ensembl:ENSBTAT00000082469) - c.898C>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs456916574 | 305 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037350.1:g.11266395G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266395G>C Locations: - p.Gln305His (Ensembl:ENSBTAT00000082469) - c.915G>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs431993038 | 305 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037350.1:g.11266393C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266393C>A Locations: - p.Gln305Lys (Ensembl:ENSBTAT00000082469) - c.913C>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs454660707 | 318 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037350.1:g.11266432A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266432A>C Locations: - p.Thr318Pro (Ensembl:ENSBTAT00000082469) - c.952A>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs473267192 | 319 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037350.1:g.11266435A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266435A>G Locations: - p.Ile319Val (Ensembl:ENSBTAT00000082469) - c.955A>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs440174333 | 324 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037350.1:g.11266451A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266451A>C Locations: - p.Gln324Pro (Ensembl:ENSBTAT00000082469) - c.971A>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs453430482 | 327 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037350.1:g.11266459G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037350.1:g.11266459G>T Locations: - p.Glu327Ter (Ensembl:ENSBTAT00000082469) - c.979G>T (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs471699773 | 327 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037350.1:g.11266461G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11266461G>C Locations: - p.Glu327Asp (Ensembl:ENSBTAT00000082469) - c.981G>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs435837163 | 332 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037350.1:g.11271749T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11271749T>C Locations: - p.Val332Ala (Ensembl:ENSBTAT00000082469) - c.995T>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs526980316 | 332 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037350.1:g.11271748G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11271748G>A Locations: - p.Val332Met (Ensembl:ENSBTAT00000082469) - c.994G>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs381205345 | 337 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037350.1:g.11271764G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11271764G>A Locations: - p.Arg337His (Ensembl:ENSBTAT00000082469) - c.1010G>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs447809645 | 352 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037350.1:g.11271810A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11271810A>C Locations: - p.Glu352Asp (Ensembl:ENSBTAT00000082469) - c.1056A>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs466168259 | 355 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037350.1:g.11271817C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11271817C>G Locations: - p.Gln355Glu (Ensembl:ENSBTAT00000082469) - c.1063C>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs470409853 | 377 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037350.1:g.11273662G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11273662G>C Locations: - p.Val377Leu (Ensembl:ENSBTAT00000082469) - c.1129G>C (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs457080015 | 387 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037350.1:g.11273694C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037350.1:g.11273694C>A Locations: - p.Cys387Ter (Ensembl:ENSBTAT00000082469) - c.1161C>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs443683218 | 390 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037350.1:g.11273701T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11273701T>G Locations: - p.Tyr390Asp (Ensembl:ENSBTAT00000082469) - c.1168T>G (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: | |||||||
rs464004579 | 456 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037350.1:g.11276106C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037350.1:g.11276106C>A Locations: - p.Leu456Ile (Ensembl:ENSBTAT00000082469) - c.1366C>A (Ensembl:ENSBTAT00000082469) Source type: large scale study Cross-references: |