Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.A217insFs

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.A217insFs
c.649dupG
Surrounding Variants
1 paper
NM_001122630.2
p.Q215_A217ins1
c.644_649dup6
1 paper
NM_001122630.2
p.A213_N218Fs
c.637_652delinsCCCFs
1 paper
NM_001122630.2
p.P205_A217del0
c.614_649del36
2 papers
NM_001122630.2
p.Q219*
c.655C>T
NM_000076.2
p.Q230*
c.688C>T
1 paper
NM_001122630.2
p.Q215Fs
c.644delinsGGGFs
1 paper
NM_001122630.2
p.E214_Q215Fs
c.641_644delinsGGGFs
1 paper
NM_000076.2
p.Q226*
c.676C>T
NM_001122630.2
p.Q215*
c.643C>T
1 paper
NM_001122630.2
p.E214insFs
c.642dupG
1 paper
NM_000076.2
p.G231_Q232insCC
c.691_695ins6
1 paper
NM_000076.2
p.E225delFs
c.673delC
1 paper
NM_001122630.2
p.A213delFs
c.638delG
5 papers
NM_000076.2
p.Q232*
c.694C>T
NM_001362474.2
p.Q221*
c.661C>T
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