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Gene | CHEK2 |
Variant | P90S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 P90S does not lie within any known functional domains of the Chek2 protein (UniProt.org). P90S has been identified in sequencing studies (PMID: 26580448), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 P90S |
Transcript | NM_007194.4 |
gDNA | chr22:g.28734454G>A |
cDNA | c.268C>T |
Protein | p.P90S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024452149.2 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529844.2 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529840.4 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_017028560.2 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529842.2 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_017028560 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_024452148.1 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529840 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529842 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529840.3 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_017028560.1 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_001349956.1 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529844.3 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_001005735 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_047441106.1 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_047441107.1 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_024452149.1 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529842.3 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529841.1 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_001005735.1 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_047441104.1 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529839 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529839.2 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529841 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529844 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529839.3 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_011529843 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_001005735.2 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_001349956.2 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_024452148.2 | chr22:g.28734484G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
XM_047441105.1 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28734454G>A | c.268C>T | p.P90S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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