Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.P59A

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.P59A
c.175C>G
Surrounding Variants
1 paper
NM_000076.2
p.P70T
c.208C>A
4 papers
NM_000076.2
p.P70L
c.209C>T
NM_001122630.2
p.P59L
c.176C>T
4 papers
NM_001122630.2
p.D57_P59delFs
c.171_175del5
1 paper
NM_001122630.2
p.R61L
c.182G>T
1 paper
NM_001122630.2
p.Q56R
c.167A>G
2 papers
NM_001122630.2
p.G62S
c.184G>A
1 paper
NM_000076.2
p.Q67*
c.199C>T
1 paper
NM_001122630.2
p.G62insFs
c.185_186insA
2 papers
NM_001122630.2
p.F54_Q55delFs
c.160_164del5
1 paper
NM_001122630.2
p.G62fs
c.184_185fs
1 paper
NM_000076.2
p.G73delFs
c.218delC
NM_001122630.2
p.G62delFs
c.185delC
1 paper
NM_001122630.2
p.R61_G62del1
c.183_185delCCC
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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."