Gene Variant Detail

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Gene MLH1
Variant K618A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 K618A lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of K618A is conflicting, as it results in mismatch repair activity similar to wild-type Mlh1 in in vitro assays (PMID: 16083711, PMID: 20020535, PMID: 21120944) and stable microsatellites (PMID: 36054288), but has also been reported to have reduced binding to Pms2 (PMID: 10037723), reduced Pms2 and Mlh1 expression (PMID: 36054288), decreased mismatch repair activity in culture (PMID: 31784484), and to cause reduced cell line viability (PMID: 16982745).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 K618A

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Transcript NM_000249.4
gDNA chr3:g.37047639_37047640delAAinsGC
cDNA c.1852_1853delAAinsGC
Protein p.K618A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_000249 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MLH1 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
MLH1 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MLH1 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MLH1 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MLH1 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). detail...
MLH1 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...