Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CHEK2 |
Variant | P85L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 P85L does not lie within any known functional domains of the Chek2 protein (UniProt.org). P85L results in decreased Chek2 kinase activity in an in vitro kinase assay (PMID: 17721994) but DNA repair activity similar to wild-type Chek2 in a yeast assay (PMID: 22419737) and complements Rad53 loss similar to wild-type in a yeast assay (PMID: 15649950), and therefore, its effect on Chek2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 P85L |
Transcript | NM_007194.4 |
gDNA | chr22:g.28734468G>A |
cDNA | c.254C>T |
Protein | p.P85L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011529842.3 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529840.4 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529841.1 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_047441104.1 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529841 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_001005735.1 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529844 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529840.3 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_024452149.2 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_001349956.2 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529844.3 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_006724116.3 | chr22:g.28710055G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529839.2 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529842.2 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_001005735 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529844.2 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_024452149.1 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529840 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_024452148.2 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529839.3 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_047441107.1 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_006724116.2 | chr22:g.28710055G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529842 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_047441106.1 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_017028560.2 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_006724116 | chr22:g.28710055G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_001005735.2 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529843 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_047441105.1 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
NM_001349956.1 | chr22:g.28734468G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_011529839 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_017028560.1 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_017028560 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
XM_024452148.1 | chr22:g.28734498G>A | c.254C>T | p.P85L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CHEK2 P85L | unknown | Olaparib |