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Gene CHEK2
Variant T168I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 T168I lies within the FHA domain of the Chek2 protein (UniProt.org). T168I results in a loss of Kap1 phosphorylation at serine (S)-473 in culture, but demonstrates conflicting effects on Kap1 phosphorylation in in vitro assays (PMID: 31050813), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 T168I

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Transcript NM_007194.4
gDNA chr22:g.28725066G>A
cDNA c.503C>T
Protein p.T168I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862 chr22:g.28725066G>A c.503C>T p.T168I RefSeq GRCh38/hg38
NM_001257387.2 chr22:g.28695803G>A c.503C>T p.T168I RefSeq GRCh38/hg38
NM_001257387 chr22:g.28695803G>A c.503C>T p.T168I RefSeq GRCh38/hg38
XM_011529845.2 chr22:g.28695803G>A c.503C>T p.T168I RefSeq GRCh38/hg38
NM_007194 chr22:g.28725066G>A c.503C>T p.T168I RefSeq GRCh38/hg38
XM_017028561 chr22:g.28695803G>A c.503C>T p.T168I RefSeq GRCh38/hg38
XM_011529845.3 chr22:g.28695803G>A c.503C>T p.T168I RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725066G>A c.503C>T p.T168I RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725066G>A c.503C>T p.T168I RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725066G>A c.503C>T p.T168I RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725066G>A c.503C>T p.T168I RefSeq GRCh38/hg38
XM_011529845 chr22:g.28695803G>A c.503C>T p.T168I RefSeq GRCh38/hg38
XM_017028561.2 chr22:g.28695803G>A c.503C>T p.T168I RefSeq GRCh38/hg38
NM_001257387.1 chr22:g.28695803G>A c.503C>T p.T168I RefSeq GRCh38/hg38

Filtering

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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")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
CHEK2 T168I unknown