Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.R84*

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
8 papers
NM_000389.5
p.R84*
c.250C>T
Surrounding Variants
2 papers
NM_000389.5
p.R84fs
c.250_251fs
3 papers
NM_000389.5
p.R84fs
c.250_251fs
3 papers
NM_000389.5
p.R84_R86delFs
c.251_258del8
1 paper
NM_000389.5
p.R84_D87delFs
c.251_261del11
23 papers
NM_000389.5
p.R84Q
c.251G>A
1 paper
NM_000389.5
p.R83R
c.249G>A
1 paper
NM_000389.5
p.R84_L89delFs
c.252_265del14
1 paper
NM_000389.5
p.R84R
c.252A>G
1 paper
NM_000389.5
p.G85_D87delFs
c.255_259del5
2 papers
NM_000389.5
p.R83Q
c.248G>A
1 paper
NM_000389.5
p.R83_R86delFs
c.249_256del8
4 papers
NM_000389.5
p.R83fs
c.247_248fs
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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."