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Gene | MLH1 |
Variant | E102* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 E102* results in a premature truncation of the Mlh1 protein at amino acid 102 of 756 (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), E102* is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 E102* |
Transcript | NM_000249.4 |
gDNA | chr3:g.37001051G>T |
cDNA | c.304G>T |
Protein | p.E102* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354628.2 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
XM_017006451 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
XM_011533727 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354626.1 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354625.2 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354625.1 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354624.2 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354624.1 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354627.1 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354627.2 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37001051G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
NM_001354626.2 | chr3:g.37025976G>T | c.304G>T | p.E102* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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