Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.A199_P200insFs

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.A199_P200insFs
c.597_598ins11
Surrounding Variants
1 paper
NM_000076.2
p.A199insFs
c.596_597ins11
1 paper
NM_001122630.2
p.P189_A190ins10
c.565_569ins30
1 paper
NM_001362474.2
p.P200P
c.600A>G
1 paper
NM_001122630.2
p.P189insFs
c.566dupC
1 paper
NM_001122630.2
p.P181_A185del0
c.543_554del12
1 paper
NM_000076.2
p.A193_A201insFs
c.578_602dup25
1 paper
NM_001122630.2
p.P183_A185del3
c.547_554del9
1 paper
NM_000076.2
p.A201insFs
c.602dupC
1 paper
NM_001122630.2
p.P183_A185ins1
c.549_554dup6
1 paper
NM_000076.2
p.A201delFs
c.602delG
1 paper
NM_001122630.2
p.P183_A185del0
c.549_554del6
2 papers
NM_001122630.2
p.P189_P191del0
c.567_572del6
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