MLH1 K286Q
Gene Variant Detail

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Gene MLH1
Variant K286Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MLH1 K286Q lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). K286Q results in Mlh1 and Pms2 expression comparable to wild-type in culture and mismatch repair activity comparable to wild-type in culture (PMID: 36054288), in two of three yeast assays, and in an in vitro assay (PMID: 17510385), and does not alter splicing in an in vitro assay (PMID: 26761715), and therefore, is predicted to have no effect on Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 K286Q

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Transcript NM_000249.4
gDNA chr3:g.37017571A>C
cDNA c.856A>C
Protein p.K286Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37017571A>C c.856A>C p.K286Q RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37017571A>C c.856A>C p.K286Q RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37017571A>C c.856A>C p.K286Q RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37017571A>C c.856A>C p.K286Q RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 ovarian cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org). detail...
MLH1 mutant adrenocortical carcinoma 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 adrenocortical 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 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 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...
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...