Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.G124V

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.G124V
c.371G>T
Surrounding Variants
2 papers
NM_000389.5
p.G124R
c.370G>C
1 paper
NM_000389.5
p.G124G
c.372G>C
1 paper
NM_000389.5
p.E125K
c.373G>A
1 paper
NM_000389.5
p.E125*
c.373G>T
2 papers
NM_000389.5
p.E125E
c.375G>A
1 paper
NM_000389.5
p.E125D
c.375G>C
1 paper
NM_000389.5
p.Q126*
c.376C>T
1 paper
NM_000389.5
p.R122H
c.365G>A
1 paper
NM_000389.5
p.R122P
c.365G>C
1 paper
NM_000389.5
p.R122delFs
c.366delC
1 paper
NM_000389.5
p.R122G
c.364C>G
3 papers
NM_000389.5
p.R122C
c.364C>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."