Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.L77_Q78insFs

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.L77_Q78insFs
c.231_232insCC
Surrounding Variants
3 papers
NM_000076.2
p.Q78*
c.232C>T
1 paper
NM_000076.2
p.Q78insFs
c.232_233insCC
1 paper
NM_001122630.2
p.R65_Q67delFs
c.195_199del5
1 paper
NM_000076.2
p.W79S
c.236G>C
1 paper
NM_000076.2
p.W79*
c.236G>A
1 paper
NM_001122630.2
p.G64del1
c.190_192delTCC
1 paper
NM_000076.2
p.W79C
c.237G>T
1 paper
NM_000076.2
p.W79C
c.237G>C
1 paper
NM_000076.2
p.W79*
c.237G>A
1 paper
NM_001122630.2
p.P59_G64delFs
c.176_191del16
1 paper
NM_000076.2
p.T80P
c.238A>C
1 paper
NM_001122630.2
p.P63_G64insFs
c.189_190ins10
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