Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.C34Y

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.C34Y
c.101G>A
Surrounding Variants
1 paper
NM_000389.5
p.C34*
c.102T>A
1 paper
NM_000389.5
p.C34C
c.102T>C
2 papers
NM_000389.5
p.C34fs
c.100_101fs
1 paper
NM_000389.5
p.D35_Q43del9
c.103_128del27
1 paper
NM_000389.5
p.C34_D35delFs
c.102_103delTG
1 paper
NM_000389.5
p.D35insFs
c.104_105insA
1 paper
NM_000389.5
p.D35_Q43del0
c.104_127del24
1 paper
NM_000389.5
p.D33G
c.98A>G
1 paper
NM_000389.5
p.D33_D35Fs
c.98_104delinsTCCFs
3 papers
NM_000389.5
p.D33N
c.97G>A
1 paper
NM_000389.5
p.D33H
c.97G>C
2 papers
NM_000389.5
p.D33fs
c.97_98fs
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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."