Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.L167L

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.L167L
c.499C>T
Surrounding Variants
1 paper
NM_001122630.2
p.V166L
c.496G>C
1 paper
NM_001362474.2
p.A176A
c.528G>C
2 papers
NM_001122630.2
p.A160_V164del5
c.478_491del15
4 papers
NM_001122630.2
p.A160_V164del0
c.479_490del12
NM_001362474.2
p.A171_A174del0
c.511_522del12
1 paper
NM_000076.2
p.V175I
c.523G>A
1 paper
NM_001122630.2
p.A159_V162delFs
c.477_484del8
1 paper
NM_001122630.2
p.A170insFs
c.509dupC
1 paper
NM_001122630.2
p.A172T
c.514G>A
1 paper
NM_001362474.2
p.A167_P172delFs
c.499_514del16
1 paper
NM_001122630.2
p.P161fs
c.481_482fs
1 paper
NM_001122630.2
p.P161S
c.481C>T
1 paper
NM_001122630.2
p.A160delFs
c.479delG
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