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Gene MLH1
Variant E319K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 E319K lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E319K has been identified in the scientific literature (PMID: 31187078), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 E319K

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Transcript NM_000249.4
gDNA chr3:g.37020380G>A
cDNA c.955G>A
Protein p.E319K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38
NM_001258271 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38
NM_000249 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37020380G>A c.955G>A p.E319K RefSeq GRCh38/hg38

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  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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