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Gene MLH1
Variant E13*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 E13* results in a premature truncation of the Mlh1 protein at amino acid 13 of 756 (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), E13* is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 E13*

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Transcript NM_000249.4
gDNA chr3:g.36993584G>T
cDNA c.37G>T
Protein p.E13*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.1 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36993584G>T c.37G>T p.E13* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References