Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.Q47*

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
2 papers
NM_000076.2
p.Q47*
c.139C>T
Surrounding Variants
1 paper
NM_001122630.2
p.L35_Q36delFs
c.104_107del4
1 paper
NM_001122630.2
p.A37S
c.109G>T
1 paper
NM_001122630.2
p.A37T
c.109G>A
1 paper
NM_001122630.2
p.A37V
c.110C>T
1 paper
NM_001122630.2
p.D27_E34Fs
c.79_100delinsGTCFs
1 paper
NM_001122630.2
p.D27_E34Fs
c.79_100delinsGTGACCFs
1 paper
NM_001122630.2
p.D27_E34Fs
c.79_100delinsGTGFs
1 paper
NM_001362474.2
p.R44L
c.131G>T
1 paper
NM_001362474.2
p.R44H
c.131G>A
2 papers
NM_000076.2
p.L50P
c.149T>C
3 papers
NM_000076.2
p.L42P
c.125T>C
2 papers
NM_001122630.2
p.E41*
c.121G>T
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