MLH1 S677Rfs*15
Gene Variant Detail

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Gene MLH1
Variant S677Rfs*15
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 S677Rfs*15 indicates a shift in the reading frame starting at amino acid 677 and terminating 15 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), S677Rfs*15 is predicted to lead to a loss of the Mlh1 protein.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 S677Rfs*15

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Transcript NM_000249.4
gDNA chr3:g.(37048943_37048990)
cDNA c.(2029_2076)
Protein p.S677Rfs*15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.3 chr3:g.(37048943_37048990) c.(2029_2076) p.S677Rfs*15 RefSeq GRCh38/hg38
NM_000249.4 chr3:g.(37048943_37048990) c.(2029_2076) p.S677Rfs*15 RefSeq GRCh38/hg38
NM_000249 chr3:g.(37048943_37048990) c.(2029_2076) p.S677Rfs*15 RefSeq GRCh38/hg38

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