Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.A244_A246del0

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.A244_A246del0
c.730_738del9
Surrounding Variants
1 paper
NM_001122630.2
p.A248V
c.743C>T
1 paper
NM_001122630.2
p.A245T
c.733G>A
1 paper
NM_000076.2
p.T254_A255del2
c.760_764del6
1 paper
NM_000076.2
p.A252_A255delFs
c.755_765del11
1 paper
NM_001122630.2
p.A244_N249del0
c.731_745del15
1 paper
NM_001122630.2
p.A244E
c.731C>A
1 paper
NM_001122630.2
p.T243delFs
c.729delG
1 paper
NM_000076.2
p.G253_T254delFs
c.757_761del5
NM_001122630.2
p.G242_T243delFs
c.724_728del5
2 papers
NM_000076.2
p.A262V
c.785C>T
NM_001122630.2
p.A251V
c.752C>T
2 papers
NM_000076.2
p.A262fs
c.784_785fs
1 paper
NM_001122630.2
p.G242C
c.724G>T
1 paper
NM_001362474.2
p.A262delFs
c.784_785delGC
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