Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.K302delFs

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.K302delFs
c.905delT
Surrounding Variants
1 paper
NM_000076.2
p.P311P
c.933G>T
3 papers
NM_000076.2
p.R316W
c.946C>T
NM_001362474.2
p.R305W
c.913C>T
3 papers
NM_000076.2
p.R316Q
c.947G>A
1 paper
NM_001122630.2
p.P300S
c.898C>T
1 paper
NM_000076.2
p.V307_E308ins7
c.919_923ins21
1 paper
NM_001122630.2
p.V293_G294delFs
c.879_880delCC
1 paper
NM_001122630.2
p.V293delFs
c.877_878delAC
1 paper
NM_001122630.2
p.V293_G294insFs
c.879_880ins8
1 paper
NM_001122630.2
p.P291delFs
c.872delG
NM_000076.2
p.P302delFs
c.905delG
3 papers
NM_001122630.2
p.S288C
c.862A>T
1 paper
NM_001122630.2
p.S286Fs
c.856_858delinsCFs
1 paper
NM_001122630.2
p.C284_P285delins
c.852_854delinsGAA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."