Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.D7G

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
3 papers
NM_000389.5
p.D7G
c.20A>G
Surrounding Variants
1 paper
NM_000389.5
p.D7N
c.19G>A
1 paper
NM_000389.5
p.D7Y
c.19G>T
2 papers
NM_000389.5
p.D7fs
c.19_20fs
1 paper
NM_000389.5
p.D7E
c.21T>A
1 paper
NM_000389.5
p.G6G
c.18G>A
1 paper
NM_000389.5
p.V8I
c.22G>A
1 paper
NM_000389.5
p.G6G
c.18G>C
1 paper
NM_000389.5
p.V8fs
c.22_23fs
2 papers
NM_000389.5
p.G6E
c.17G>A
1 paper
NM_000389.5
p.G6A
c.17G>C
1 paper
NM_000389.5
p.R9_N11insFs
c.26_33dup8
1 paper
NM_000389.5
p.V8V
c.24C>G
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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."