Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.D52A

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
3 papers
NM_000389.5
p.D52A
c.155A>C
Surrounding Variants
1 paper
NM_000389.5
p.D52_F53insFs
c.156_157insT
2 papers
NM_000389.5
p.F53delFs
c.159delT
1 paper
NM_000389.5
p.F53delFs
c.157_158delTT
3 papers
NM_000389.5
p.D52N
c.154G>A
1 paper
NM_000389.5
p.D52H
c.154G>C
1 paper
NM_000389.5
p.D52fs
c.154_155fs
1 paper
NM_000389.5
p.F51L
c.153C>A
1 paper
NM_000389.5
p.F51L
c.153C>G
2 papers
NM_000389.5
p.F53I
c.157T>A
1 paper
NM_000389.5
p.F53L
c.157T>C
2 papers
NM_000389.5
p.F53fs
c.157_158fs
1 paper
NM_000389.5
p.F53fs
c.157_158fs
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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."