Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.Y63N

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_000076.2
p.Y63N
c.187T>A
Surrounding Variants
1 paper
NM_000076.2
p.W61C
c.183G>C
1 paper
NM_000076.2
p.F65L
c.193T>C
1 paper
NM_000076.2
p.D64del1
c.190_192delGTC
NM_001122630.2
p.D53del1
c.157_159delGTC
1 paper
NM_000076.2
p.R60delFs
c.178delG
1 paper
NM_000076.2
p.F65L
c.195C>G
1 paper
NM_000076.2
p.F65L
c.195C>A
1 paper
NM_000076.2
p.Q66*
c.196C>T
2 papers
NM_001122630.2
p.F54_Q55delFs
c.160_164del5
1 paper
NM_000076.2
p.Q67*
c.199C>T
1 paper
NM_001122630.2
p.Q56R
c.167A>G
1 paper
NM_001122630.2
p.D46delFs
c.138delG
1 paper
NM_001122630.2
p.D46_Q47delFs
c.138_139delGG
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