Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.C284_P285delins

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.C284_P285delins
c.852_854delinsGAA
Surrounding Variants
1 paper
NM_001122630.2
p.P285S
c.853C>T
1 paper
NM_001122630.2
p.S286Fs
c.856_858delinsCFs
1 paper
NM_001122630.2
p.A282delFs
c.845delG
3 papers
NM_001122630.2
p.S288C
c.862A>T
1 paper
NM_001122630.2
p.A282G
c.845C>G
2 papers
NM_001122630.2
p.A282E
c.845C>A
1 paper
NM_001122630.2
p.P291delFs
c.872delG
NM_000076.2
p.P302delFs
c.905delG
1 paper
NM_001122630.2
p.S277S
c.831G>T
1 paper
NM_001122630.2
p.V293_G294insFs
c.879_880ins8
1 paper
NM_001122630.2
p.V293delFs
c.877_878delAC
1 paper
NM_001122630.2
p.P273_S276delFs
c.818_827del10
1 paper
NM_001122630.2
p.S276delFs
c.826delA
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