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Gene | CHEK2 |
Variant | K437E |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | CHEK2 K437E lies within the protein kinase domain of the Chek2 protein (UniProt.org). K437E results in similar Kap1 phosphorylation at serine (S)-473 as compared to wild-type Chek2 in in vitro assays and in cell culture (PMID: 31050813). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 K437E |
Transcript | NM_007194.4 |
gDNA | chr22:g.28695193T>C |
cDNA | c.1309A>G |
Protein | p.K437E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194.4 | chr22:g.28695193T>C | c.1309A>G | p.K437E | RefSeq | GRCh38/hg38 |
XM_011529842.3 | chr22:g.28689197T>C | c.1309A>G | p.K437E | RefSeq | GRCh38/hg38 |
XM_011529842.2 | chr22:g.28689197T>C | c.1309A>G | p.K437E | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28695193T>C | c.1309A>G | p.K437E | RefSeq | GRCh38/hg38 |
XM_011529842 | chr22:g.28689197T>C | c.1309A>G | p.K437E | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28695193T>C | c.1309A>G | p.K437E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CHEK2 K437E | no effect |