Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.V139delFs

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.V139delFs
c.416delA
Surrounding Variants
1 paper
NM_000076.2
p.P140fs
c.418_419fs
1 paper
NM_001122630.2
p.Q124delFs
c.371delT
1 paper
NM_000076.2
p.L136_A143delFs
c.406_427del22
2 papers
NM_001122630.2
p.P133T
c.397C>A
1 paper
NM_001122630.2
p.A134T
c.400G>A
1 paper
NM_000076.2
p.E134insFs
c.400dupG
NM_001122630.2
p.E123insFs
c.367dupG
1 paper
NM_001122630.2
p.E123K
c.367G>A
1 paper
NM_001122630.2
p.A134insFs
c.400dupG
NM_000076.2
p.A145insFs
c.433_434insG
1 paper
NM_000076.2
p.E131_A132del1
c.392_394delCCT
1 paper
NM_000076.2
p.E131fs
c.391_392fs
1 paper
NM_001122630.2
p.E120V
c.359A>T
1 paper
NM_001122630.2
p.E120*
c.358G>T
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