Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.G72C

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.G72C
c.214G>T
Surrounding Variants
1 paper
NM_000389.5
p.G72S
c.214G>A
1 paper
NM_000389.5
p.G72fs
c.214_215fs
3 papers
NM_000389.5
p.G72A
c.215G>C
1 paper
NM_000389.5
p.L73delFs
c.217delC
1 paper
NM_000389.5
p.L71L
c.213T>A
1 paper
NM_000389.5
p.L71_G72insFs
c.213_214insT
1 paper
NM_000389.5
p.L71F
c.211C>T
1 paper
NM_000389.5
p.G70G
c.210C>T
1 paper
NM_000389.5
p.L73P
c.218T>C
1 paper
NM_000389.5
p.L73_P74insFs
c.219_220insG
2 papers
NM_000389.5
p.G70D
c.209G>A
2 papers
NM_000389.5
p.P74A
c.220C>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."