Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.V120delFs

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.V120delFs
c.360delG
Surrounding Variants
2 papers
NM_000389.5
p.V120V
c.360G>A
1 paper
NM_000389.5
p.V120L
c.358G>C
1 paper
NM_000389.5
p.V120L
c.358G>T
1 paper
NM_000389.5
p.P121fs
c.361_362fs
3 papers
NM_000389.5
p.P121S
c.361C>T
1 paper
NM_000389.5
p.P121L
c.362C>T
1 paper
NM_000389.5
p.L119insFs
c.356_357ins4
1 paper
NM_000389.5
p.R122_G129del8
c.364_386del24
1 paper
NM_000389.5
p.R122G
c.364C>G
3 papers
NM_000389.5
p.R122C
c.364C>T
2 papers
NM_000389.5
p.T118S
c.353C>G
2 papers
NM_000389.5
p.T118I
c.353C>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."