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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, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 S271F |
Transcript | NM_000249.4 |
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_000249 | chr3:g.37017527C>T | c.812C>T | p.S271F | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37017527C>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_001167617.2 | chr3:g.37025704C>T | c.812C>T | p.S271F | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37017527C>T | c.812C>T | p.S271F | RefSeq | GRCh38/hg38 |
NM_001354628.2 | 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_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 |
XM_005265161.2 | chr3:g.37020444C>T | c.812C>T | p.S271F | RefSeq | GRCh38/hg38 |
NM_001354620.2 | chr3:g.37025704C>T | c.812C>T | p.S271F | RefSeq | GRCh38/hg38 |
NM_000249.4 | 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 |
NM_001167617 | chr3:g.37025704C>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_001167617.3 | chr3:g.37025704C>T | c.812C>T | p.S271F | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37017527C>T | c.812C>T | p.S271F | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37020444C>T | c.812C>T | p.S271F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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