Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.Q29P

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.Q29P
c.86A>C
Surrounding Variants
1 paper
NM_000389.5
p.Q29R
c.86A>G
2 papers
NM_000389.5
p.Q29*
c.85C>T
1 paper
NM_000389.5
p.L30delFs
c.88delC
5 papers
NM_000389.5
p.E28G
c.83A>G
1 paper
NM_000389.5
p.E28K
c.82G>A
1 paper
NM_000389.5
p.L30L
c.90G>A
1 paper
NM_000389.5
p.E28fs
c.82_83fs
2 papers
NM_000389.5
p.E28*
c.82G>T
1 paper
NM_000389.5
p.E28fs
c.82_83fs
1 paper
NM_000389.5
p.S31fs
c.91_92fs
140 papers
NM_000389.5
p.S31R
c.91A>C
2 papers
NM_000389.5
p.S31C
c.91A>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."