Gene Variant Detail

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Gene MLH1
Variant R522Gfs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 R522Gfs*13 indicates a shift in the reading frame starting at amino acid 522 and terminating 13 residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), R522Gfs*13 is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 R522Gfs*13

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Transcript NM_000249.4
gDNA chr3:g.37040191delC
cDNA c.1564delC
Protein p.R522Gfs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38
NM_001258271 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38
NM_000249 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37040191delC c.1564delC p.R522Gfs*13 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References