P21457 · RECO_BOVIN
- ProteinRecoverin
- GeneRCVRN
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids202 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs478625142 | 16 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037346.1:g.29036147T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29036147T>C Locations: - p.Glu16Gly (Ensembl:ENSBTAT00000035069) - c.47A>G (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: | |||||||
rs461766733 | 18 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037346.1:g.29036140C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29036140C>G Locations: - p.Gln18His (Ensembl:ENSBTAT00000035069) - c.54G>C (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: | |||||||
rs441625771 | 29 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: NC_037346.1:g.29036108C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29036108C>G Locations: - p.Ser29Thr (Ensembl:ENSBTAT00000035069) - c.86G>C (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: | |||||||
rs476938910 | 32 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037346.1:g.29036100A>C Codon: TAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29036100A>C Locations: - p.Tyr32Asp (Ensembl:ENSBTAT00000035069) - c.94T>G (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: | |||||||
rs456775999 | 34 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037346.1:g.29036094A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29036094A>G Locations: - p.Ser34Pro (Ensembl:ENSBTAT00000035069) - c.100T>C (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: | |||||||
rs722144424 | 77 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037346.1:g.29035964C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29035964C>A Locations: - p.Ser77Ile (Ensembl:ENSBTAT00000035069) - c.230G>T (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: | |||||||
rs108984924 | 94 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037346.1:g.29035912G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29035912G>T Locations: - p.Ser94Arg (Ensembl:ENSBTAT00000035069) - c.282C>A (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: | |||||||
rs439787287 | 112 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037346.1:g.29035858A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29035858A>C Locations: - p.Asp112Glu (Ensembl:ENSBTAT00000035069) - c.336T>G (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: | |||||||
rs458191889 | 140 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037346.1:g.29032223T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29032223T>C Locations: - p.His140Arg (Ensembl:ENSBTAT00000035069) - c.419A>G (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: | |||||||
rs456778398 | 202 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_037346.1:g.29028621A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037346.1:g.29028621A>G Locations: - p.Leu202Pro (Ensembl:ENSBTAT00000035069) - c.605T>C (Ensembl:ENSBTAT00000035069) Source type: large scale study Cross-references: |