Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.A29T

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_001362474.2
p.A29T
c.85G>A
Surrounding Variants
1 paper
NM_001122630.2
p.C19F
c.56G>T
1 paper
NM_001122630.2
p.C19C
c.57C>T
1 paper
NM_001122630.2
p.R20ins9
c.59_60ins27
1 paper
NM_001122630.2
p.R20R
c.60C>T
1 paper
NM_001122630.2
p.V14A
c.41T>C
2 papers
NM_001122630.2
p.V14E
c.41T>A
1 paper
NM_000076.2
p.V25M
c.73G>A
2 papers
NM_000076.2
p.L33R
c.98T>G
3 papers
NM_000076.2
p.L33H
c.98T>A
1 paper
NM_001122630.2
p.L13insFs
c.37_38ins11
1 paper
NM_000076.2
p.G35fs
c.103_104fs
2 papers
NM_001122630.2
p.G24G
c.72G>A
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