Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.R279S

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
3 papers
NM_000076.2
p.R279S
c.835C>A
Surrounding Variants
2 papers
NM_000076.2
p.R279C
c.835C>T
8 papers
NM_000076.2
p.R279L
c.836G>T
7 papers
NM_000076.2
p.R279P
c.836G>C
2 papers
NM_000076.2
p.R279H
c.836G>A
6 papers
NM_000076.2
p.K278E
c.832A>G
1 paper
NM_001122630.2
p.R268delFs
c.804delG
1 paper
NM_001362474.2
p.A277V
c.830C>T
1 paper
NM_001122630.2
p.R270*
c.808A>T
NM_000076.2
p.R281*
c.841A>T
3 papers
NM_000076.2
p.R281I
c.842G>T
1 paper
NM_001122630.2
p.R270T
c.809G>C
2 papers
NM_000076.2
p.F276fs
c.826_827fs
1 paper
NM_000076.2
p.F276Fs
c.828delinsAAFs
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."