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Gene | CHEK1 |
Variant | E223_T226delinsA |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK1 E223_T226delinsA results in a deletion of four amino acids from aa 223 to 226 within the protein kinase domain of the Chek1 protein, combined with the insertion of an Alanine (A) at the same site (UniProt.org). E223_T226delinsA has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK1 mutant CHEK1 E223_T226delinsA |
Transcript | NM_001114121.2 |
gDNA | chr11:g.125635483_125635491delAAAAAAAAA |
cDNA | c.668_676delAAAAAAAAA |
Protein | p.E223_T226delinsA |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024448337.2 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
XM_017017146 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
XM_047426311.1 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001114122.3 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001244846 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001114122 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
XM_017017146.2 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001114122.2 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001274 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
NM_001114121 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
XM_024448337.1 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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