Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.D206insFs

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.D206insFs
c.616dupG
NM_000076.2
p.D217insFs
c.649dupG
Surrounding Variants
1 paper
NM_000076.2
p.A215_D217ins1
c.644_649dup6
NM_001122630.2
p.A204_D206ins1
c.611_616dup6
1 paper
NM_001122630.2
p.A200_A204ins1
c.600_611dup12
3 papers
NM_001122630.2
p.A200_A204del0
c.600_611del12
1 paper
NM_001122630.2
p.A194_D206del0
c.581_616del36
1 paper
NM_001122630.2
p.A207T
c.619G>A
2 papers
NM_001122630.2
p.A200_A204del5
c.598_611del15
1 paper
NM_001122630.2
p.A208T
c.622G>A
1 paper
NM_001122630.2
p.A204Fs
c.611delinsGGGFs
NM_000076.2
p.A215Fs
c.644delinsGGGFs
1 paper
NM_000076.2
p.P214_A215Fs
c.641_644delinsGGGFs
NM_001122630.2
p.P203_A204Fs
c.608_611delinsGGGFs
1 paper
NM_000076.2
p.A209_A213delFs
c.627_637del11
1 paper
NM_001122630.2
p.P203delFs
c.608delG
NM_000076.2
p.P214delFs
c.641delG
1 paper
NM_001122630.2
p.Q210insFs
c.629_630ins11
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