Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.S212insFs

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_001122630.2
p.S212insFs
c.635dupG
Surrounding Variants
1 paper
NM_001122630.2
p.A204_S212insFs
c.611_635dup25
1 paper
NM_001122630.2
p.A213T
c.637G>A
3 papers
NM_001122630.2
p.A213fs
c.637_638fs
1 paper
NM_000076.2
p.Q221_E222del2
c.661_665del6
1 paper
NM_001122630.2
p.E211ins2
c.632_633ins6
1 paper
NM_001122630.2
p.D206_Q210del5
c.616_629del15
1 paper
NM_001122630.2
p.A213delFs
c.638delG
1 paper
NM_001122630.2
p.E211Q
c.631G>C
1 paper
NM_001122630.2
p.E211Fs
c.631delinsAAFs
1 paper
NM_000076.2
p.E225delFs
c.673delC
1 paper
NM_001122630.2
p.Q210_E211insFs
c.630_631ins11
1 paper
NM_001122630.2
p.A208_Q210del0
c.624_629del6
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