Q3UPH1 · PRRC1_MOUSE
- ProteinProtein PRRC1
- GenePrrc1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids443 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389515067 | 24 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000084.7:g.57495594G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57495594G>A Locations: - p.Ala24Thr (Ensembl:ENSMUST00000025490) - c.70G>A (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs47766380 | 34 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000084.7:g.57496151C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496151C>T Locations: - p.Ala34Val (Ensembl:ENSMUST00000025490) - c.101C>T (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389496679 | 47 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000084.7:g.57496189G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496189G>A Locations: - p.Glu47Lys (Ensembl:ENSMUST00000025490) - c.139G>A (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs212806132 | 53 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000084.7:g.57496208T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496208T>C Locations: - p.Val53Ala (Ensembl:ENSMUST00000025490) - c.158T>C (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs51266157 | 53 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000084.7:g.57496207G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496207G>A Locations: - p.Val53Met (Ensembl:ENSMUST00000025490) - c.157G>A (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389515077 | 58 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.57496222C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496222C>T Locations: - p.Gln58Ter (Ensembl:ENSMUST00000025490) - c.172C>T (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3553952867 | 81 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000084.7:g.57496291G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496291G>A Locations: - p.Val81Ile (Ensembl:ENSMUST00000025490) - c.241G>A (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389515103 | 88 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000084.7:g.57496312G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496312G>A Locations: - p.Val88Met (Ensembl:ENSMUST00000025490) - c.262G>A (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs223580350 | 90 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000084.7:g.57496318C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496318C>A Locations: - p.Pro90Thr (Ensembl:ENSMUST00000025490) - c.268C>A (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389517402 | 102 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000084.7:g.57496355G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496355G>A Locations: - p.Gly102Asp (Ensembl:ENSMUST00000025490) - c.305G>A (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389451513 | 128 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000084.7:g.57496433T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496433T>C Locations: - p.Ile128Thr (Ensembl:ENSMUST00000025490) - c.383T>C (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389515115 | 136 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000084.7:g.57496457C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496457C>T Locations: - p.Thr136Ile (Ensembl:ENSMUST00000025490) - c.407C>T (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389503123 | 142 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.57496475G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496475G>A Locations: - p.Gly142Glu (Ensembl:ENSMUST00000025490) - c.425G>A (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389503112 | 156 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000084.7:g.57496518T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57496518T>G Locations: - p.Phe156Leu (Ensembl:ENSMUST00000025490) - c.468T>G (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389469565 | 168 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000084.7:g.57498275C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57498275C>T Locations: - p.Pro168Ser (Ensembl:ENSMUST00000025490) - c.502C>T (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389412853 | 289 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.57507712G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.57507712G>T Locations: - p.Gly289Ter (Ensembl:ENSMUST00000025490) - c.865G>T (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389504483 | 298 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000084.7:g.57507739G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57507739G>C Locations: - p.Val298Leu (Ensembl:ENSMUST00000025490) - c.892G>C (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389508788 | 303 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000084.7:g.57507755G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57507755G>C Locations: - p.Gly303Ala (Ensembl:ENSMUST00000025490) - c.908G>C (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389517409 | 305 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.57507761A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57507761A>C Locations: - p.Lys305Thr (Ensembl:ENSMUST00000025490) - c.914A>C (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389515075 | 331 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.57514776A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57514776A>T Locations: - p.Asn331Ile (Ensembl:ENSMUST00000025490) - c.992A>T (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3408587462 | 390 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000084.7:g.57522337C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57522337C>T Locations: - p.Leu390Phe (Ensembl:ENSMUST00000025490) - c.1168C>T (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: | |||||||
rs3389482683 | 405 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000084.7:g.57522382G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.57522382G>A Locations: - p.Val405Ile (Ensembl:ENSMUST00000025490) - c.1213G>A (Ensembl:ENSMUST00000025490) Source type: large scale study Cross-references: |