Gene Variant Detail

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Gene MLH1
Variant S271F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 S271F lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). S271F has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Apr 2022).
Associated Drug Resistance

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Transcript NM_000249.3
gDNA chr3:g.37017527C>T
cDNA c.812C>T
Protein p.S271F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.1 chr3:g.37017527C>T c.812C>T p.S271F RefSeq GRCh38/hg38
XM_005265161 chr3:g.37020444C>T c.812C>T p.S271F RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37025704C>T c.812C>T p.S271F RefSeq GRCh38/hg38
NM_001258271 chr3:g.37017527C>T c.812C>T p.S271F RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37017527C>T c.812C>T p.S271F RefSeq GRCh38/hg38
NM_000249 chr3:g.37017527C>T c.812C>T p.S271F RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37017527C>T c.812C>T p.S271F RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37025704C>T c.812C>T p.S271F RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37020444C>T c.812C>T p.S271F RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37017527C>T c.812C>T p.S271F RefSeq GRCh38/hg38
NM_001167617 chr3:g.37025704C>T c.812C>T p.S271F RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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 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...
Molecular Profile Protein Effect Treatment Approaches
MLH1 S271F unknown