Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.K254_K255del2

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.K254_K255del2
c.760_764del6
Surrounding Variants
1 paper
NM_001122630.2
p.A248_I253delFs
c.743_759del17
1 paper
NM_000076.2
p.I264_K265insCC
c.790_794ins6
1 paper
NM_001362474.2
p.A262delFs
c.784_785delGC
1 paper
NM_000076.2
p.L271L
c.811C>T
2 papers
NM_000076.2
p.A262fs
c.784_785fs
2 papers
NM_000076.2
p.A262V
c.785C>T
NM_001122630.2
p.A251V
c.752C>T
2 papers
NM_000076.2
p.I272S
c.815T>G
1 paper
NM_001122630.2
p.A244_N249del0
c.731_745del15
1 paper
NM_001122630.2
p.D263Y
c.787G>T
1 paper
NM_000076.2
p.D274_F275ins7
c.820_824ins21
2 papers
NM_001362474.2
p.D274N
c.820G>A
1 paper
NM_001122630.2
p.D263Splc
c.787+1G>A
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