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Gene MLH1
Variant N38H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 N38H lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). N38H demonstrates a loss of mismatch repair activity in an in vitro assay (PMID: 20020535), 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 N38H

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Transcript NM_000249.4
gDNA chr3:g.36993659A>C
cDNA c.112A>C
Protein p.N38H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_000249 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
XM_005265161 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36993659A>C c.112A>C p.N38H RefSeq GRCh38/hg38

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