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Gene | MLH1 |
Variant | V612del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 V612del results in the deletion of an amino acid within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein at amino acid 612 (PMID: 22753075). V612del results in altered subcellular localization and reduced protein expression compared to wild-type Mlh1 (PMID: 21120944), and therefore, is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 V612del |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047622_37047624delTTG |
cDNA | c.1835_1837delTTG |
Protein | p.V612delV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37047622_37047624delTTG | c.1835_1837delTTG | p.V612delV | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.37048955_37048957delGCT | c.1834_1836delGCT | p.A612delA | RefSeq | GRCh38/hg38 |
XM_047448152.1 | chr3:g.37048553_37048555delAAC | c.1834_1836delAAC | p.N612delN | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.37048955_37048957delGCT | c.1834_1836delGCT | p.A612delA | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37047622_37047624delTTG | c.1835_1837delTTG | p.V612delV | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37047622_37047624delTTG | c.1835_1837delTTG | p.V612delV | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.37048553_37048555delAAC | c.1834_1836delAAC | p.N612delN | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37047622_37047624delTTG | c.1835_1837delTTG | p.V612delV | RefSeq | GRCh38/hg38 |
NM_001354620.2 | chr3:g.37050510_37050512delAAC | c.1834_1836delAAC | p.N612delN | RefSeq | GRCh38/hg38 |
NM_001354629.1 | chr3:g.37048553_37048555delAAC | c.1834_1836delAAC | p.N612delN | RefSeq | GRCh38/hg38 |
NM_001167617.2 | chr3:g.37050510_37050512delAAC | c.1834_1836delAAC | p.N612delN | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37048955_37048957delGCT | c.1834_1836delGCT | p.A612delA | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37047622_37047624delTTG | c.1835_1837delTTG | p.V612delV | RefSeq | GRCh38/hg38 |
NM_001167617 | chr3:g.37050510_37050512delAAC | c.1834_1836delAAC | p.N612delN | RefSeq | GRCh38/hg38 |
NM_001167617.3 | chr3:g.37050510_37050512delAAC | c.1834_1836delAAC | p.N612delN | RefSeq | GRCh38/hg38 |
NM_001354620.1 | chr3:g.37050510_37050512delAAC | c.1834_1836delAAC | p.N612delN | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37047622_37047624delTTG | c.1835_1837delTTG | p.V612delV | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37047622_37047624delTTG | c.1835_1837delTTG | p.V612delV | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37048915_37048917delCGA | c.1836_1838delCGA | p.D612delD | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37047622_37047624delTTG | c.1835_1837delTTG | p.V612delV | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37048915_37048917delCGA | c.1836_1838delCGA | p.D612delD | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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