Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.E56_T57del2

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.E56_T57del2
c.166_170del6
Surrounding Variants
1 paper
NM_000389.5
p.T55S
c.164C>G
3 papers
NM_000389.5
p.E56K
c.166G>A
2 papers
NM_000389.5
p.E56_T57insC
c.166_170ins3
1 paper
NM_000389.5
p.E56*
c.166G>T
1 paper
NM_000389.5
p.T55fs
c.163_164fs
1 paper
NM_000389.5
p.E56A
c.167A>C
3 papers
NM_000389.5
p.T55A
c.163A>G
2 papers
NM_000389.5
p.E56G
c.167A>G
2 papers
NM_000389.5
p.T55S
c.163A>T
1 paper
NM_000389.5
p.T57fs
c.169_170fs
5 papers
NM_000389.5
p.T57A
c.169A>G
2 papers
NM_000389.5
p.V54D
c.161T>A
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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."