Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.C117insFs

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.C117insFs
c.350_351insT
Surrounding Variants
11 papers
NM_000389.5
p.C117Y
c.350G>A
1 paper
NM_000389.5
p.C117S
c.349T>A
1 paper
NM_000389.5
p.T118A
c.352A>G
3 papers
NM_000389.5
p.T118S
c.352A>T
1 paper
NM_000389.5
p.T118fs
c.352_353fs
2 papers
NM_000389.5
p.T118S
c.353C>G
2 papers
NM_000389.5
p.T118I
c.353C>T
1 paper
NM_000389.5
p.S116_E125delFs
c.348_373del26
2 papers
NM_000389.5
p.S116A
c.346T>G
2 papers
NM_000389.5
p.S116fs
c.346_347fs
1 paper
NM_000389.5
p.L115L
c.345G>T
1 paper
NM_000389.5
p.L119insFs
c.356_357ins4
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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."