Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.S114*

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.S114*
c.341C>G
Surrounding Variants
1 paper
NM_000389.5
p.S114*
c.341C>A
2 papers
NM_000389.5
p.S114L
c.341C>T
1 paper
NM_000389.5
p.L115L
c.343C>T
1 paper
NM_000389.5
p.L113Q
c.338T>A
1 paper
NM_000389.5
p.L113P
c.338T>C
1 paper
NM_000389.5
p.L113M
c.337C>A
1 paper
NM_000389.5
p.L113fs
c.337_338fs
1 paper
NM_000389.5
p.L115L
c.345G>T
2 papers
NM_000389.5
p.S116A
c.346T>G
2 papers
NM_000389.5
p.S116fs
c.346_347fs
2 papers
NM_000389.5
p.D112A
c.335A>C
1 paper
NM_000389.5
p.D112G
c.335A>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."