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Gene MSH6
Variant Y1044*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 Y1044* results in a premature truncation of the Msh6 protein at amino acid 1044 of 1360 (UniProt.org). Y1044* has not been characterized, however, due to loss of 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 Y1044*

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Transcript NM_000179.3
gDNA chr2:g.47801115C>A
cDNA c.3132C>A
Protein p.Y1044*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406798.1 chr2:g.47801115C>A c.3132C>A p.Y1044* RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47801115C>A c.3132C>A p.Y1044* RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47801115C>A c.3132C>A p.Y1044* RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47801115C>A c.3132C>A p.Y1044* RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47801115C>A c.3132C>A p.Y1044* RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47801115C>A c.3132C>A p.Y1044* RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47801115C>A c.3132C>A p.Y1044* RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47801115C>A c.3132C>A p.Y1044* RefSeq GRCh38/hg38
NM_000179 chr2:g.47801115C>A c.3132C>A p.Y1044* RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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