Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A

CDKN1A

1,992 papers

RefSeq Summary

This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus...

Pfam Domains

CDIaa 20–68UCSCCyclin-dependent kinase inhibitor

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 1A

HGNC Previous Symbol

CDKN1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 765 variants
143 papers
NM_000389.5
p.S31R
c.93C>A
140 papers
NM_000389.5
p.S31R
c.91A>C
140 papers
NM_000389.5
p.S31R
c.93C>G
32 papers
NM_000389.5
p.P24S
c.70C>T
23 papers
NM_000389.5
p.R84Q
c.251G>A
19 papers
NM_000389.5
p.P4P
c.12G>C
14 papers
NM_000389.5
p.W49R
c.145T>A
12 papers
NM_000389.5
p.T145A
c.433A>G
11 papers
NM_000389.5
p.P4P
c.12G>A
11 papers
NM_000389.5
p.C117Y
c.350G>A
9 papers
NM_000389.5
p.F63I
c.187T>A
8 papers
NM_000389.5
p.R84*
c.250C>T
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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."