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Gene MSH6
Variant E224*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 E224* results in a premature truncation of the Msh6 protein at amino acid 224 of 1360 (UniProt.org). E224* has not been characterized, however, due to the loss of several functional domains including the ATPase domain (PMID: 17531815, PMID: 23391514), is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 E224*

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Transcript NM_000179.3
gDNA chr2:g.47798653G>T
cDNA c.670G>T
Protein p.E224*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406803.1 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_000179 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47796010G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47796010G>T c.670G>T p.E224* RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47798653G>T c.670G>T p.E224* RefSeq GRCh38/hg38

Filtering

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