Gene Variant Detail

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Gene MSH6
Variant K99N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 K99N lies within the PWWP domain of the Msh6 protein (UniProt.org). K99N is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 K99N

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Transcript NM_000179.3
gDNA chr2:g.47790963G>C
cDNA c.297G>C
Protein p.K99N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406817.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_001406826.1 chr2:g.47795901A>C c.297A>C p.K99N RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_000179 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38
NM_001406804.1 chr2:g.47791041A>C c.297A>C p.K99N RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47790963G>C c.297G>C p.K99N RefSeq GRCh38/hg38

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

Sorting

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries