Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.D109D

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.D109D
c.327C>T
Surrounding Variants
1 paper
NM_000389.5
p.D109A
c.326A>C
1 paper
NM_000389.5
p.D109G
c.326A>G
2 papers
NM_000389.5
p.H110fs
c.328_329fs
1 paper
NM_000389.5
p.H110insFs
c.330dupT
1 paper
NM_000389.5
p.D109Y
c.325G>T
1 paper
NM_000389.5
p.E108D
c.324A>T
1 paper
NM_000389.5
p.E108G
c.323A>G
1 paper
NM_000389.5
p.E108V
c.323A>T
1 paper
NM_000389.5
p.V111M
c.331G>A
1 paper
NM_000389.5
p.V111fs
c.331_332fs
1 paper
NM_000389.5
p.V111insFs
c.332dupT
1 paper
NM_000389.5
p.E108Q
c.322G>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."