Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.A193_A201insFs

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_000076.2
p.A193_A201insFs
c.578_602dup25
Surrounding Variants
1 paper
NM_000076.2
p.A201insFs
c.602dupC
1 paper
NM_000076.2
p.A201delFs
c.602delG
2 papers
NM_001122630.2
p.P189_P191del0
c.567_572del6
1 paper
NM_001122630.2
p.P191del1
c.571_572delCGG
1 paper
NM_001362474.2
p.P200P
c.600A>G
1 paper
NM_001122630.2
p.P189insFs
c.566dupC
1 paper
NM_000076.2
p.P204fs
c.610_611fs
1 paper
NM_001122630.2
p.P189_A190ins10
c.565_569ins30
1 paper
NM_001122630.2
p.A190_A192del3
c.568_575del9
1 paper
NM_000076.2
p.P204Fs
c.611delinsGGGFs
1 paper
NM_000076.2
p.A199_P200insFs
c.597_598ins11
1 paper
NM_000076.2
p.A203_P204Fs
c.608_611delinsGGGFs
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