Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.S2_E3insFs

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.S2insFs
c.5_6insAA
Surrounding Variants
1 paper
NM_000389.5
p.S2*
c.5C>A
2 papers
NM_000389.5
p.S2*
c.5C>G
3 papers
NM_000389.5
p.S2L
c.5C>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.S2P
c.4T>C
2 papers
NM_000389.5
p.S2A
c.4T>G
1 paper
NM_000389.5
p.S2fs
c.4_5fs
5 papers
NM_000389.5
p.M1I
c.3G>A
2 papers
NM_000389.5
p.M1I
c.3G>C
2 papers
NM_000389.5
p.E3Q
c.7G>C
1 paper
NM_000389.5
p.M1_S2insFs
c.3_4insA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."