Gene Variant Detail

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Gene MLH1
Variant I630S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 I630S lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). I630S has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 I630S

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Transcript NM_000249.4
gDNA chr3:g.37047676T>G
cDNA c.1889T>G
Protein p.I630S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37047676T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_001167617.3 chr3:g.37050565T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047676T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37050565T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37050565T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047676T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047676T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_001167617 chr3:g.37050565T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_000249 chr3:g.37047676T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047676T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047676T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047676T>G c.1889T>G p.I630S RefSeq GRCh38/hg38
NM_001354620.2 chr3:g.37050565T>G c.1889T>G p.I630S RefSeq GRCh38/hg38

Filtering

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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