Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.P139insFs

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.P139insFs
c.415_416dupCC
Surrounding Variants
1 paper
NM_001122630.2
p.P139delFs
c.416delG
NM_000076.2
p.P150delFs
c.449delG
1 paper
NM_001122630.2
p.V140F
c.418G>T
1 paper
NM_001122630.2
p.P138_P139del2
c.412_416del6
1 paper
NM_001362474.2
p.P152P
c.456G>A
1 paper
NM_001122630.2
p.T136_L143delFs
c.406_427del22
NM_000076.2
p.T147_L154delFs
c.439_460del22
1 paper
NM_001362474.2
p.L154delFs
c.461delA
1 paper
NM_000076.2
p.P156insFs
c.466_467insG
NM_001122630.2
p.P145insFs
c.433_434insG
1 paper
NM_001122630.2
p.A134insFs
c.400dupG
NM_000076.2
p.A145insFs
c.433_434insG
1 paper
NM_001122630.2
p.A134T
c.400G>A
1 paper
NM_001122630.2
p.P145insFs
c.434_435insG
NM_000076.2
p.P156insFs
c.467_468insG
2 papers
NM_001122630.2
p.P133T
c.397C>A
1 paper
NM_000076.2
p.L136_A143delFs
c.406_427del22
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