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Gene MLH1
Variant R182G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 R182G lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of R182G is conflicting as it results in mismatch repair activity comparable to wild-type Mlh1 in yeast assays and in an in vitro assay (PMID: 17510385) but leads to alternative splicing and loss of Mlh1 and Pms2 in a patient sample (PMID: 22773173).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R182G

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Transcript NM_000249.4
gDNA chr3:g.37008904A>G
cDNA c.544A>G
Protein p.R182G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37008904A>G c.544A>G p.R182G RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37008904A>G c.544A>G p.R182G RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37008904A>G c.544A>G p.R182G RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37008904A>G c.544A>G p.R182G RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37008904A>G c.544A>G p.R182G 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 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 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...
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 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 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...