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Gene MLH1
Variant A20V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 A20V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). A20V has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 A20V

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Transcript NM_000249.4
gDNA chr3:g.36993606C>T
cDNA c.59C>T
Protein p.A20V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001258271 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
XM_005265161 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_000249 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36993606C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36993606C>T c.59C>T p.A20V 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