Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.S422fs

CHEK2

3,508 papers

RefSeq Summary

In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint re...

Pfam Domains

FHAaa 113–192UCSCFHA domain
Pkinaseaa 220–486UCSCProtein kinase domain

Gene Aliases

HGNC Name

checkpoint kinase 2

HGNC Previous Symbol

RAD53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
16 papers
NM_007194.4
p.S422fs
c.1264_1265fs
Surrounding Variants
3 papers
NM_007194.4
p.S422C
c.1264A>T
2 papers
NM_007194.4
p.S422G
c.1264A>G
2 papers
NM_007194.4
p.S422R
c.1264A>C
45 papers
NM_007194.4
p.L421delFs
c.1263delA
NM_001005735.2
p.L464delFs
c.1392delA
6 papers
NM_001005735.2
p.L464fs
c.1390_1391fs
NM_007194.4
p.L421fs
c.1261_1262fs
1 paper
NM_007194.4
p.S422I
c.1265G>T
6 papers
NM_007194.4
p.S422T
c.1265G>C
10 papers
NM_007194.4
p.S422N
c.1265G>A
9 papers
NM_007194.4
p.S422fs
c.1264_1265fs
2 papers
NM_007194.4
p.S422R
c.1266T>G
1 paper
NM_007194.4
p.L421R
c.1262T>G
1 paper
NM_007194.4
p.L421P
c.1262T>C
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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."