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 | 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 |
---|---|---|---|---|---|
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 |
XM_024448337.1 | 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 |
XM_017017146.2 | 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 | 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_001114122.2 | 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 |
NM_001274.5 | 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_047426311.1 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
XM_024448337.2 | 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 |
XM_017017146 | chr11:g.125635483_125635491delAAAAAAAAA | c.668_676delAAAAAAAAA | p.E223_T226delinsA | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|