Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.S282*

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
5 papers
NM_000076.2
p.S282*
c.845C>G
NM_001122630.2
p.S271*
c.812C>G
Surrounding Variants
1 paper
NM_001122630.2
p.S271L
c.812C>T
5 papers
NM_000076.2
p.S282*
c.845C>A
NM_001122630.2
p.S271*
c.812C>A
1 paper
NM_001122630.2
p.R270delFs
c.808_809delCT
2 papers
NM_000076.2
p.S282fs
c.844_845fs
2 papers
NM_000076.2
p.S282delFs
c.845delG
1 paper
NM_001122630.2
p.A272T
c.814G>A
3 papers
NM_000076.2
p.R281I
c.842G>T
1 paper
NM_001122630.2
p.R270T
c.809G>C
1 paper
NM_001362474.2
p.A283V
c.848C>T
1 paper
NM_001122630.2
p.R270*
c.808A>T
NM_000076.2
p.R281*
c.841A>T
1 paper
NM_001122630.2
p.R268delFs
c.804delG
1 paper
NM_001122630.2
p.E274_K275ins7
c.820_824ins21
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