Gene Variant Detail

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Gene MLH1
Variant S252*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 S252* results in a premature truncation of the Mlh1 protein at amino acid 252 of 756 (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), S252* is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 S252*

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Transcript NM_000249.4
gDNA chr3:g.37014509C>A
cDNA c.755C>A
Protein p.S252*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37020386_37020388delAGCinsTGA c.754_756delAGCinsTGA p.S252* RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38
XM_005265161 chr3:g.37020386_37020388delAGCinsTGA c.754_756delAGCinsTGA p.S252* RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38
NM_001258271 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38
NM_000249 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37020386_37020388delAGCinsTGA c.754_756delAGCinsTGA p.S252* RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37014509C>A c.755C>A p.S252* RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries