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Gene MLH1
Variant V4A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 V4A lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). V4A has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 V4A

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Transcript NM_000249.4
gDNA chr3:g.36993558T>C
cDNA c.11T>C
Protein p.V4A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
XM_005265161 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_001258271 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_000249 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36993558T>C c.11T>C p.V4A RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36993558T>C c.11T>C p.V4A 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