Gene Variant Detail

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Gene MLH1
Variant E313*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 E313* results in a premature truncation of the Mlh1 protein at amino acid 313 of 756 (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), E313* is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 E313*

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Transcript NM_000249.4
gDNA chr3:g.37020362G>T
cDNA c.937G>T
Protein p.E313*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354627.1 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354627.2 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38
XM_017006451 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354624.2 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
XM_011533727 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354624.1 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354626.1 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_000249 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354626.2 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354625.2 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001258271 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354625.1 chr3:g.37048925G>T c.937G>T p.E313* RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37020362G>T c.937G>T p.E313* RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References