Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.A200_P201ins1

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.A200_P201ins1
c.600_601insGTG
Surrounding Variants
1 paper
NM_000076.2
p.A211Fs
c.631delinsAAFs
NM_001122630.2
p.A200Fs
c.598delinsAAFs
1 paper
NM_001122630.2
p.A198_P199delFs
c.593_596del4
1 paper
NM_001122630.2
p.P195_P199del5
c.583_596del15
1 paper
NM_000076.2
p.A211fs
c.631_632fs
1 paper
NM_000076.2
p.P212insFs
c.635dupC
NM_001122630.2
p.P201insFs
c.602dupC
1 paper
NM_001122630.2
p.P193_P201insFs
c.578_602dup25
NM_000076.2
p.P204_P212insFs
c.611_635dup25
1 paper
NM_000076.2
p.P212delFs
c.635delG
NM_001122630.2
p.P201delFs
c.602delG
1 paper
NM_000076.2
p.P204_P206ins1
c.611_616dup6
1 paper
NM_001122630.2
p.P199_A200insFs
c.597_598ins11
NM_000076.2
p.P210_A211insFs
c.630_631ins11
1 paper
NM_001362474.2
p.P208_P210del0
c.624_629del6
2 papers
NM_001362474.2
p.P206_A209del0
c.616_627del12
NM_001122630.2
p.P195_P199del0
c.585_596del12
1 paper
NM_001122630.2
p.P199insFs
c.596_597ins11
NM_000076.2
p.P210insFs
c.629_630ins11
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