Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.T80fs

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
2 papers
NM_000389.5
p.T80fs
c.238_239fs
Surrounding Variants
1 paper
NM_000389.5
p.T80A
c.238A>G
1 paper
NM_000389.5
p.T80fs
c.238_239fs
1 paper
NM_000389.5
p.G81_D87delFs
c.243_259del17
1 paper
NM_000389.5
p.T80K
c.239C>A
1 paper
NM_000389.5
p.T80M
c.239C>T
1 paper
NM_000389.5
p.T80_R94delFs
c.238_280del43
1 paper
NM_000389.5
p.P79T
c.235C>A
1 paper
NM_000389.5
p.P79A
c.235C>G
1 paper
NM_000389.5
p.G81fs
c.241_242fs
1 paper
NM_000389.5
p.G81E
c.242G>A
1 paper
NM_000389.5
p.G81A
c.242G>C
1 paper
NM_000389.5
p.P82_E88del7
c.244_263del21
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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."