Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.Q235*

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.Q235*
c.703C>T
NM_001122630.2
p.Q224*
c.670C>T
Surrounding Variants
1 paper
NM_000076.2
p.G234fs
c.700_701fs
1 paper
NM_001122630.2
p.G223C
c.667G>T
1 paper
NM_001122630.2
p.Q221_R222del2
c.661_665del6
1 paper
NM_001122630.2
p.E225delFs
c.673delC
NM_000076.2
p.E236delFs
c.706delC
1 paper
NM_001122630.2
p.P226S
c.676C>T
1 paper
NM_001122630.2
p.P226insFs
c.676_677insG
1 paper
NM_001122630.2
p.Q221P
c.662A>C
5 papers
NM_000076.2
p.Q232*
c.694C>T
NM_001362474.2
p.Q221*
c.661C>T
1 paper
NM_000076.2
p.G231_Q232insCC
c.691_695ins6
1 paper
NM_001122630.2
p.A228D
c.683C>A
2 papers
NM_001122630.2
p.Q219*
c.655C>T
NM_000076.2
p.Q230*
c.688C>T
6 papers
NM_000076.2
p.Q241*
c.721C>T
NM_001122630.2
p.Q230*
c.688C>T
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