Q3U6F1 · Q3U6F1_MOUSE
- ProteinRecombination signal binding protein for immunoglobulin kappa J region
- GeneRbpj
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids465 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388754678 | 22 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.53793374C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.53793374C>T Locations: - p.Gln22Ter (Ensembl:ENSMUST00000201883) - c.64C>T (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3395531039 | 35 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000071.7:g.53799379C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53799379C>A Locations: - p.Pro35Thr (Ensembl:ENSMUST00000201883) - c.103C>A (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388764510 | 36 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000071.7:g.53799383C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53799383C>T Locations: - p.Pro36Leu (Ensembl:ENSMUST00000201883) - c.107C>T (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3395555878 | 37 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.53799385T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53799385T>A Locations: - p.Cys37Ser (Ensembl:ENSMUST00000201883) - c.109T>A (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388747607 | 37 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.53799386G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53799386G>A Locations: - p.Cys37Tyr (Ensembl:ENSMUST00000201883) - c.110G>A (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3395478552 | 38 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.53799389T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53799389T>A Locations: - p.Val38Glu (Ensembl:ENSMUST00000201883) - c.113T>A (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3395343177 | 39 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.53799391T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53799391T>G Locations: - p.Tyr39Asp (Ensembl:ENSMUST00000201883) - c.115T>G (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388743752 | 111 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000071.7:g.53803289C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53803289C>G Locations: - p.Phe111Leu (Ensembl:ENSMUST00000201883) - c.333C>G (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388759456 | 117 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.53803305G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53803305G>T Locations: - p.Asp117Tyr (Ensembl:ENSMUST00000201883) - c.349G>T (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388747676 | 124 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.53803326A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53803326A>G Locations: - p.Lys124Glu (Ensembl:ENSMUST00000201883) - c.370A>G (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388732521 | 269 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.53808807A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53808807A>T Locations: - p.Arg269Ser (Ensembl:ENSMUST00000201883) - c.807A>T (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388754642 | 311 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.53810057C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53810057C>T Locations: - p.Pro311Ser (Ensembl:ENSMUST00000201883) - c.931C>T (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388761634 | 331 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.53810437G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53810437G>A Locations: - p.Gly331Glu (Ensembl:ENSMUST00000201883) - c.992G>A (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388761854 | 350 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.53810495G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.53810495G>A Locations: - p.Trp350Ter (Ensembl:ENSMUST00000201883) - c.1050G>A (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388761876 | 369 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000071.7:g.53810670T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53810670T>C Locations: - p.Val369Ala (Ensembl:ENSMUST00000201883) - c.1106T>C (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388743751 | 392 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000071.7:g.53810738A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53810738A>T Locations: - p.Thr392Ser (Ensembl:ENSMUST00000201883) - c.1174A>T (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388762190 | 409 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000071.7:g.53810790A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53810790A>C Locations: - p.Tyr409Ser (Ensembl:ENSMUST00000201883) - c.1226A>C (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: | |||||||
rs3388755097 | 412 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.53810799A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53810799A>T Locations: - p.Glu412Val (Ensembl:ENSMUST00000201883) - c.1235A>T (Ensembl:ENSMUST00000201883) Source type: large scale study Cross-references: |