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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

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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_000249.4 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38
NM_000249 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_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_001354630.2 chr3:g.37048915_37048917delCGA c.1836_1838delCGA p.D612delD RefSeq GRCh38/hg38
XM_005265161 chr3:g.37048955_37048957delGCT c.1834_1836delGCT p.A612delA RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37050510_37050512delAAC c.1834_1836delAAC p.N612delN RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37048915_37048917delCGA c.1836_1838delCGA p.D612delD RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38
NM_001167617.3 chr3:g.37050510_37050512delAAC c.1834_1836delAAC p.N612delN RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37048955_37048957delGCT c.1834_1836delGCT p.A612delA RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.37048553_37048555delAAC c.1834_1836delAAC p.N612delN RefSeq GRCh38/hg38
XM_047448152.1 chr3:g.37048553_37048555delAAC 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_001258271.1 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37048955_37048957delGCT c.1834_1836delGCT p.A612delA RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38

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Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References