Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.D274Splc

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
2 papers
NM_000076.2
p.D274Splc
c.821-9C>A
NM_001122630.2
p.D263Splc
c.788-9C>A
Surrounding Variants
1 paper
NM_001362474.2
p.D274Splc
c.821-3C>G
1 paper
NM_000076.2
p.D274Splc
c.821-15C>A
2 papers
NM_000076.2
p.D274Splc
c.821-2A>G
1 paper
NM_001122630.2
p.D263Y
c.787G>T
6 papers
NM_000076.2
p.D274N
c.820G>A
1 paper
NM_000076.2
p.D274A
c.821A>C
1 paper
NM_001122630.2
p.F264_F265insCC
c.790_794ins6
6 papers
NM_000076.2
p.F276V
c.826T>G
1 paper
NM_001362474.2
p.F276Fs
c.826delinsAGFs
1 paper
NM_000076.2
p.F276L
c.826T>C
1 paper
NM_000076.2
p.D274_F276Fs
c.822_826delinsGAGCTGFs
5 papers
NM_001362474.2
p.F276S
c.827T>C
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