Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.Q43_E47del5

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.Q43_E47del5
c.127_140del15
Surrounding Variants
1 paper
NM_000389.5
p.Q43E
c.127C>G
2 papers
NM_000389.5
p.Q43*
c.127C>T
1 paper
NM_000389.5
p.Q43_R46delFs
c.128_138del11
1 paper
NM_000389.5
p.I42N
c.125T>A
1 paper
NM_000389.5
p.Q43delFs
c.127delC
1 paper
NM_000389.5
p.I42F
c.124A>T
1 paper
NM_000389.5
p.Q43L
c.128A>T
1 paper
NM_000389.5
p.C41W
c.123C>G
2 papers
NM_000389.5
p.Q43H
c.129G>C
1 paper
NM_000389.5
p.Q43H
c.129G>T
2 papers
NM_000389.5
p.E44K
c.130G>A
4 papers
NM_000389.5
p.E44Q
c.130G>C
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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."