Varaico: Literature-Extracted Genetic Variants

Gene:CHEK1

CHEK1

595 papers

RefSeq Summary

The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. T...

Pfam Domains

Pkinaseaa 9–265UCSCProtein kinase domain

Gene Aliases

HGNC Name

checkpoint kinase 1

HGNC Alias Symbol

CHK1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 361 variants
24 papers
NM_001114122.3
p.I471V
c.1411A>G
16 papers
NM_001114122.3
p.T226insFs
c.676dupA
15 papers
NM_001114122.3
p.S345A
c.1033T>G
13 papers
NM_001114122.3
p.D130A
c.389A>C
13 papers
NM_001114122.3
p.S317A
c.949T>G
12 papers
NM_001114122.3
p.T226fs
c.676_677fs
11 papers
NM_001114122.3
p.T226fs
c.676_677fs
10 papers
NM_001114122.3
p.T226delFs
c.676delA
9 papers
NM_001114122.3
p.Q346*
c.1036C>T
7 papers
NM_001114122.3
p.S345P
c.1033T>C
7 papers
NM_001114122.3
p.I437V
c.1309A>G
6 papers
NM_001114122.3
p.E22Splc
c.65+1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."