Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.L78F

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.L78F
c.232C>T
Surrounding Variants
1 paper
NM_000389.5
p.L78fs
c.232_233fs
1 paper
NM_000389.5
p.L78insFs
c.233_234dupTT
1 paper
NM_000389.5
p.Y77*
c.231C>A
1 paper
NM_000389.5
p.Y77*
c.231C>G
1 paper
NM_000389.5
p.Y77Y
c.231C>T
1 paper
NM_000389.5
p.L78H
c.233T>A
1 paper
NM_000389.5
p.L78L
c.234T>A
1 paper
NM_000389.5
p.P79insFs
c.235dupC
2 papers
NM_000389.5
p.P79delFs
c.235delC
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.Y77delFs
c.230delA
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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."