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Gene | MLH1 |
Variant | E178fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 E178fs results in a change in the amino acid sequence of the Mlh1 protein beginning at aa 178 of 756, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), E178fs is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 E178fs |
Transcript | NM_000249.4 |
gDNA | chr3:g.(37008891_37008892) |
cDNA | c.(532_531) |
Protein | p.E178fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265161.3 | chr3:g.(37008891_37008892) | c.(532_531) | p.E178fs | RefSeq | GRCh38/hg38 |
NM_001354621.2 | chr3:g.(37028928_37028929) | c.(532_531) | p.E178fs | RefSeq | GRCh38/hg38 |
NM_001354623.2 | chr3:g.(37028928_37028929) | c.(532_531) | p.E178fs | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.(37008891_37008892) | c.(532_531) | p.E178fs | RefSeq | GRCh38/hg38 |
NM_001354622.2 | chr3:g.(37028928_37028929) | c.(532_531) | p.E178fs | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.(37008891_37008892) | c.(532_531) | p.E178fs | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.(37008891_37008892) | c.(532_531) | p.E178fs | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.(37008891_37008892) | c.(532_531) | p.E178fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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