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Gene MLH1
Variant N38D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 N38D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). N38D confers a loss of Mlh1 protein function, as indicated by a loss of mismatch repair (MMR) activity in an in vitro assay (PMID: 17510385) and in cultured cells (PMID: 31784484).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 N38D

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Transcript NM_000249.4
gDNA chr3:g.36993659A>G
cDNA c.112A>G
Protein p.N38D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.2 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_000249 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
XM_005265161 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_001258271 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36993659A>G c.112A>G p.N38D RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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