Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.A45insFs

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.E44insFs
c.132dupG
Surrounding Variants
1 paper
NM_000389.5
p.E44insFs
c.131_132insGG
1 paper
NM_000389.5
p.E44A
c.131A>C
2 papers
NM_000389.5
p.E44K
c.130G>A
2 papers
NM_000389.5
p.E44E
c.132G>A
4 papers
NM_000389.5
p.E44Q
c.130G>C
1 paper
NM_000389.5
p.E44fs
c.130_131fs
1 paper
NM_000389.5
p.E44*
c.130G>T
1 paper
NM_000389.5
p.A45_D52del8
c.133_155del24
2 papers
NM_000389.5
p.A45T
c.133G>A
2 papers
NM_000389.5
p.Q43H
c.129G>C
2 papers
NM_000389.5
p.A45fs
c.133_134fs
1 paper
NM_000389.5
p.Q43H
c.129G>T
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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."