Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.Q144H

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
Selected Variant
1 paper
NM_000389.5
p.Q144H
c.432G>T
Surrounding Variants
1 paper
NM_000389.5
p.Q144H
c.432G>C
12 papers
NM_000389.5
p.T145A
c.433A>G
1 paper
NM_000389.5
p.T145N
c.434C>A
2 papers
NM_000389.5
p.Q144E
c.430C>G
1 paper
NM_000389.5
p.Q144*
c.430C>T
5 papers
NM_000389.5
p.R143Q
c.428G>A
5 papers
NM_000389.5
p.R143W
c.427C>T
1 paper
NM_000389.5
p.M147L
c.439A>T
2 papers
NM_000389.5
p.R142Q
c.425G>A
1 paper
NM_000389.5
p.R142W
c.424C>T
2 papers
NM_000389.5
p.M147K
c.440T>A
1 paper
NM_000389.5
p.R142insFs
c.424dupC
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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."