Gene Variant Detail

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Gene MSH6
Variant P623L
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 P623L lies within the connector domain of the Msh6 protein (PMID: 17531815). P623L results in dimerization with Msh2 similar to wild-type Msh6 in cultured cells, complements mismatch repair activity in Msh6-deficient cells (PMID: 15354210), and leads to subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212), and therefore, is predicted to have no effect on Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 P623L

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Transcript NM_000179.3
gDNA chr2:g.47799851C>T
cDNA c.1868C>T
Protein p.P623L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406808.1 chr2:g.47799851C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799851C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799851C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47799755C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47799755C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799851C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799851C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799851C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799851C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799851C>T c.1868C>T p.P623L RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799851C>T c.1868C>T p.P623L 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