Q5RJY2 · G2E3_MOUSE
- ProteinG2/M phase-specific E3 ubiquitin-protein ligase
- GeneG2e3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids716 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3403386520 | 17 | C>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.51400398T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51400398T>G Locations: - p.Cys17Gly (Ensembl:ENSMUST00000054308) - c.49T>G (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389246002 | 161 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000078.7:g.51403928C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51403928C>A Locations: - p.Gln161Lys (Ensembl:ENSMUST00000054308) - c.481C>A (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs1134702324 | 169 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.51403953G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51403953G>T Locations: - p.Trp169Leu (Ensembl:ENSMUST00000054308) - c.506G>T (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs231249360 | 235 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000078.7:g.51407781A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51407781A>G Locations: - p.Ile235Val (Ensembl:ENSMUST00000054308) - c.703A>G (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389211691 | 252 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000078.7:g.51409971A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51409971A>T Locations: - p.Lys252Ile (Ensembl:ENSMUST00000054308) - c.755A>T (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389223890 | 256 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000078.7:g.51409983A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51409983A>G Locations: - p.Lys256Arg (Ensembl:ENSMUST00000054308) - c.767A>G (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3549337092 | 280 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.51410056G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51410056G>T Locations: - p.Trp280Cys (Ensembl:ENSMUST00000054308) - c.840G>T (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3549359898 | 305 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000078.7:g.51410236C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51410236C>T Locations: - p.Ser305Phe (Ensembl:ENSMUST00000054308) - c.914C>T (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3549397456 | 344 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000078.7:g.51412061A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51412061A>T Locations: - p.Asp344Val (Ensembl:ENSMUST00000054308) - c.1031A>T (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs583048276 | 401 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.61) Somatic: No Accession: NC_000078.7:g.51412232G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51412232G>A Locations: - p.Ser401Asn (Ensembl:ENSMUST00000054308) - c.1202G>A (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389211689 | 414 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.51412270T>A Codon: TTA/ATA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51412270T>A Locations: - p.Leu414Ile (Ensembl:ENSMUST00000054308) - c.1240T>A (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389242039 | 415 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.51412274T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51412274T>A Locations: - p.Met415Lys (Ensembl:ENSMUST00000054308) - c.1244T>A (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389236244 | 590 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.51418444C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51418444C>T Locations: - p.Ala590Val (Ensembl:ENSMUST00000054308) - c.1769C>T (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389223858 | 602 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000078.7:g.51418479G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51418479G>A Locations: - p.Val602Ile (Ensembl:ENSMUST00000054308) - c.1804G>A (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs50432024 | 627 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000078.7:g.51419233A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51419233A>G Locations: - p.Met627Val (Ensembl:ENSMUST00000054308) - c.1879A>G (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3549365198 | 629 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.51419239G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51419239G>T Locations: - p.Asp629Tyr (Ensembl:ENSMUST00000054308) - c.1885G>T (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3549423435 | 651 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000078.7:g.51419305G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51419305G>A Locations: - p.Val651Ile (Ensembl:ENSMUST00000054308) - c.1951G>A (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3549337009 | 653 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.51419311T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51419311T>A Locations: - p.Cys653Ser (Ensembl:ENSMUST00000054308) - c.1957T>A (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs240500533 | 667 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000078.7:g.51419354A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51419354A>G Locations: - p.His667Arg (Ensembl:ENSMUST00000054308) - c.2000A>G (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389236227 | 669 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000078.7:g.51419359G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51419359G>A Locations: - p.Val669Ile (Ensembl:ENSMUST00000054308) - c.2005G>A (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389207304 | 674 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000078.7:g.51419376C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51419376C>G Locations: - p.Asn674Lys (Ensembl:ENSMUST00000054308) - c.2022C>G (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389232026 | 678 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000078.7:g.51419386G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 12q Genomic location: NC_000078.7:g.51419386G>T Locations: - p.Glu678Ter (Ensembl:ENSMUST00000054308) - c.2032G>T (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: | |||||||
rs3389245976 | 705 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000078.7:g.51419467A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.51419467A>T Locations: - p.Thr705Ser (Ensembl:ENSMUST00000054308) - c.2113A>T (Ensembl:ENSMUST00000054308) Source type: large scale study Cross-references: |