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Gene MLH1
Variant Y379C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 Y379C does not lie within any known functional domains of the Mlh1 protein (UniProt.org). Y379C results in splicing similar to wild-type Mlh1 and proficient mismatch repair activity similar to wild-type Mlh1 in an in vitro assay (PMID: 32849802), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 Y379C

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Transcript NM_000249.4
gDNA chr3:g.37025734A>G
cDNA c.1136A>G
Protein p.Y379C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.2 chr3:g.37025734A>G c.1136A>G p.Y379C RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37025734A>G c.1136A>G p.Y379C RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37025734A>G c.1136A>G p.Y379C RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37025734A>G c.1136A>G p.Y379C RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37025734A>G c.1136A>G p.Y379C RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37025734A>G c.1136A>G p.Y379C RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37025734A>G c.1136A>G p.Y379C RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37025734A>G c.1136A>G p.Y379C RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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