Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.V115G

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.V115G
c.344T>G
Surrounding Variants
1 paper
NM_001122630.2
p.A103insFs
c.308_309ins7
1 paper
NM_001122630.2
p.A103insFs
c.307_308ins7
1 paper
NM_001122630.2
p.P106delFs
c.316_317delGG
1 paper
NM_001122630.2
p.P107A
c.319C>G
1 paper
NM_000076.2
p.V111insFs
c.333dupC
NM_001122630.2
p.V100insFs
c.300dupC
1 paper
NM_001122630.2
p.V104_P107del4
c.310_320del12
1 paper
NM_001122630.2
p.P107delFs
c.321delG
1 paper
NM_000076.2
p.E120*
c.358G>T
1 paper
NM_001122630.2
p.P110S
c.328C>T
1 paper
NM_001122630.2
p.V98D
c.293T>A
1 paper
NM_000076.2
p.R107delFs
c.321delC
NM_001122630.2
p.R96delFs
c.288delC
2 papers
NM_000076.2
p.A123fs
c.367_368fs
NM_001122630.2
p.A112fs
c.334_335fs
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