Gene Variant Detail

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Gene MSH6
Variant K728T
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 K728T lies within the lever domain of the Msh6 protein (PMID: 17531815). K728T results in dimerization with Msh2 similar to wild-type Msh6 in cultured cells and complements mismatch repair activity in Msh6-deficient cells (PMID: 15354210), and therefore, is predicted to have no effect on Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 K728T

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Transcript NM_000179.3
gDNA chr2:g.47800166A>C
cDNA c.2183A>C
Protein p.K728T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406811.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001281494.2 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406815.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406829.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001281493.2 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406816.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406812.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406823.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406814.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47800166A>C c.2183A>C p.K728T 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries