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Gene | MLH1 |
Variant | E102D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 E102D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E102D is predicted to confer a loss of function to the Mlh1 protein, as demonstrated by decreased mismatch repair activity (MMR) in an in vitro assay (PMID: 17510385). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 E102D |
Transcript | NM_000249.4 |
gDNA | chr3:g.37001053G>C |
cDNA | c.306G>C |
Protein | p.E102D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354625.1 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354626.1 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354626.2 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354627.2 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354624.1 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354627.1 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354624.2 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
NM_001354625.2 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
XM_011533727 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.37001053G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
XM_017006451 | chr3:g.37025978G>C | c.306G>C | p.E102D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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