Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.E29_E30insA

CDKN1C

329 papers

RefSeq Summary

This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cel...

Pfam Domains

CDIaa 32–82UCSCCyclin-dependent kinase inhibitor

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 1C

HGNC Previous Symbols

BWCR; BWS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122630.2
p.E29_E30insA
c.85_89ins3
Surrounding Variants
1 paper
NM_000076.2
p.E41*
c.121G>T
NM_001122630.2
p.E30*
c.88G>T
1 paper
NM_001122630.2
p.H28N
c.82C>A
2 papers
NM_001122630.2
p.R20_V26insFs
c.59_77dup19
3 papers
NM_000076.2
p.L42P
c.125T>C
1 paper
NM_001122630.2
p.P25_V26delFs
c.75_76delCC
1 paper
NM_001122630.2
p.P25L
c.74C>T
1 paper
NM_001122630.2
p.P25S
c.73C>T
1 paper
NM_001122630.2
p.P25A
c.73C>G
1 paper
NM_001362474.2
p.G35delFs
c.105delC
1 paper
NM_001362474.2
p.R44L
c.131G>T
1 paper
NM_000076.2
p.G35fs
c.103_104fs
2 papers
NM_001122630.2
p.G24G
c.72G>A
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."