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Gene MLH1
Variant M383V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 M383V does not lie within any known functional domains of the Mlh1 protein (UniProt.org). M383V has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 M383V

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Transcript NM_000249.4
gDNA chr3:g.37025745A>G
cDNA c.1147A>G
Protein p.M383V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37028815A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37028815A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001167617.3 chr3:g.37028815A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001258271 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001354620.2 chr3:g.37028815A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001167617 chr3:g.37028815A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37025745A>G c.1147A>G p.M383V RefSeq GRCh38/hg38

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Sorting

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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 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 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 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...