Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.E60A

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.E60A
c.179A>C
Surrounding Variants
1 paper
NM_000389.5
p.E60insFs
c.180dupG
1 paper
NM_000389.5
p.E60G
c.179A>G
1 paper
NM_000389.5
p.E60K
c.178G>A
2 papers
NM_000389.5
p.E60fs
c.178_179fs
3 papers
NM_000389.5
p.E60*
c.178G>T
1 paper
NM_000389.5
p.G61S
c.181G>A
1 paper
NM_000389.5
p.G61C
c.181G>T
1 paper
NM_000389.5
p.E60delFs
c.178_179delGA
1 paper
NM_000389.5
p.G61D
c.182G>A
1 paper
NM_000389.5
p.G61V
c.182G>T
1 paper
NM_000389.5
p.L59insFs
c.176_177insG
3 papers
NM_000389.5
p.L59fs
c.175_176fs
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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."