Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.E3Q

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.E3Q
c.7G>C
Surrounding Variants
1 paper
NM_000389.5
p.E3fs
c.7_8fs
1 paper
NM_000389.5
p.E3*
c.7G>T
2 papers
NM_000389.5
p.E3insFs
c.7dupG
1 paper
NM_000389.5
p.E3Fs
c.7delinsTGGGTAGGGFs
1 paper
NM_000389.5
p.E3A
c.8A>C
1 paper
NM_000389.5
p.S2*
c.5C>A
1 paper
NM_000389.5
p.S2insFs
c.5_6insAA
2 papers
NM_000389.5
p.S2*
c.5C>G
3 papers
NM_000389.5
p.S2L
c.5C>T
1 paper
NM_000389.5
p.P4T
c.10C>A
1 paper
NM_000389.5
p.P4A
c.10C>G
1 paper
NM_000389.5
p.S2P
c.4T>C
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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."