A2ADR8 · A2ADR8_MOUSE
- ProteinProtein phosphatase 1, regulatory subunit 8
- GenePpp1r8
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids350 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388709837 | 20 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.132568014C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132568014C>T Locations: - p.Ala20Thr (Ensembl:ENSMUST00000105919) - c.58G>A (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388696017 | 75 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000070.7:g.132561996C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132561996C>G Locations: - p.Val75Leu (Ensembl:ENSMUST00000105919) - c.223G>C (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388704564 | 220 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.132556728C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132556728C>T Locations: - p.Gly220Ser (Ensembl:ENSMUST00000105919) - c.658G>A (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388719674 | 228 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.132556703G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132556703G>A Locations: - p.Thr228Ile (Ensembl:ENSMUST00000105919) - c.683C>T (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388704490 | 234 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000070.7:g.132556684C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132556684C>A Locations: - p.Lys234Asn (Ensembl:ENSMUST00000105919) - c.702G>T (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388709877 | 236 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000070.7:g.132555510C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132555510C>T Locations: - p.Arg236Gln (Ensembl:ENSMUST00000105919) - c.707G>A (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388705163 | 245-246 | LE>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.132555481_132555482insAACCATCACTCA Codon: -/TGAGTGATGGTT Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.132555481_132555482insAACCATCACTCA Locations: - p.Leu245_Glu246insTer (Ensembl:ENSMUST00000105919) - c.735_736insTGAGTGATGGTT (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388715198 | 250 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000070.7:g.132555469T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132555469T>C Locations: - p.Ser250Gly (Ensembl:ENSMUST00000105919) - c.748A>G (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3394888749 | 266 | L>Q | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.132555423_132555424insGCATGCAGAACTTTGCCTTCAGTGGAGGACTATATGGGGGCCTGCC Codon: GGC/GGGCAGGCCCCCATATAGTCCTCCACTGAAGGCAAAGTTCTGCATGCGC Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.132555423_132555424insGCATGCAGAACTTTGCCTTCAGTGGAGGACTATATGGGGGCCTGCC Locations: - p.Leu266GlnfsTer5 (Ensembl:ENSMUST00000105919) - c.794_795insGCAGGCCCCCATATAGTCCTCCACTGAAGGCAAAGTTCTGCATGCG (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388715227 | 269 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000070.7:g.132555411G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132555411G>A Locations: - p.Thr269Ile (Ensembl:ENSMUST00000105919) - c.806C>T (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388704504 | 276 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000070.7:g.132555389C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132555389C>G Locations: - p.Gln276His (Ensembl:ENSMUST00000105919) - c.828G>C (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: | |||||||
rs3388705160 | 287 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000070.7:g.132555358C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.132555358C>T Locations: - p.Gly287Ser (Ensembl:ENSMUST00000105919) - c.859G>A (Ensembl:ENSMUST00000105919) Source type: large scale study Cross-references: |