Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.S10_T11insFs

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_001362474.2
p.S10_T11insFs
c.30_31insG
Surrounding Variants
1 paper
NM_001362474.2
p.S10_T11insFs
c.30_31insGG
2 papers
NM_001122630.2
p.M1L
c.1A>T
NM_000076.2
p.M12L
c.34A>T
1 paper
NM_001122630.2
p.M1L
c.1A>C
NM_000076.2
p.M12L
c.34A>C
3 papers
NM_001122630.2
p.M1T
c.2T>C
1 paper
NM_001362474.2
p.T9insFs
c.25_26insG
1 paper
NM_001122630.2
p.M1I
c.3G>T
1 paper
NM_001122630.2
p.M1_E2insFs
c.3_4insA
1 paper
NM_001362474.2
p.L6P
c.17T>C
1 paper
NM_001122630.2
p.L4H
c.11T>A
3 papers
NM_000076.2
p.A4V
c.11C>T
1 paper
NM_000076.2
p.D3E
c.9C>A
1 paper
NM_000076.2
p.M1L
c.1A>T
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."