MSH6 I516Sfs*55 - Gene Variant Detail

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Gene MSH6
Variant I516Sfs*55
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 I516Sfs*55 indicates a shift in the reading frame starting at amino acid 516 and terminating 55 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). I516Sfs*55 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 I516Sfs*55

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Transcript NM_000179.3
gDNA chr2:g.47799529delA
cDNA c.1546delA
Protein p.I516Sfs*55
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179 chr2:g.47799528delG c.1545delG p.I516Sfs*55 RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799529delA c.1546delA p.I516Sfs*55 RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799529delA c.1546delA p.I516Sfs*55 RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799529delA c.1546delA p.I516Sfs*55 RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799529delA c.1546delA p.I516Sfs*55 RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799529delA c.1546delA p.I516Sfs*55 RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799529delA c.1546delA p.I516Sfs*55 RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799529delA c.1546delA p.I516Sfs*55 RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799529delA c.1546delA p.I516Sfs*55 RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.(47799529_47803526) c.(1546_1713) p.I516Sfs*55 RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799529delA c.1546delA p.I516Sfs*55 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References