Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.D149H

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
2 papers
NM_000389.5
p.D149H
c.445G>C
Surrounding Variants
3 papers
NM_000389.5
p.D149N
c.445G>A
3 papers
NM_000389.5
p.D149A
c.446A>C
6 papers
NM_000389.5
p.D149G
c.446A>G
1 paper
NM_000389.5
p.D149delFs
c.445delG
1 paper
NM_000389.5
p.D149Splc
c.445+1G>A
1 paper
NM_000389.5
p.T148K
c.443C>A
1 paper
NM_000389.5
p.D149Splc
c.445+5G>C
2 papers
NM_000389.5
p.M147K
c.440T>A
1 paper
NM_000389.5
p.M147L
c.439A>T
1 paper
NM_000389.5
p.T145N
c.434C>A
12 papers
NM_000389.5
p.T145A
c.433A>G
1 paper
NM_000389.5
p.Q144H
c.432G>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."