Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.A17A

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.A17A
c.51C>A
Surrounding Variants
1 paper
NM_000389.5
p.C18Y
c.53G>A
1 paper
NM_000389.5
p.R19insFs
c.55dupC
1 paper
NM_000389.5
p.A17fs
c.49_50fs
1 paper
NM_000389.5
p.C18delFs
c.54delC
1 paper
NM_000389.5
p.R19delFs
c.56_57delGC
1 paper
NM_000389.5
p.R19_V25del0
c.55_75del21
1 paper
NM_000389.5
p.K16K
c.48G>A
6 papers
NM_000389.5
p.K16N
c.48G>C
4 papers
NM_000389.5
p.K16N
c.48G>T
3 papers
NM_000389.5
p.K16R
c.47A>G
1 paper
NM_000389.5
p.K16M
c.47A>T
1 paper
NM_000389.5
p.R19fs
c.55_56fs
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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."