Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.A213delFs

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.A213delFs
c.638delG
Surrounding Variants
1 paper
NM_000076.2
p.E225delFs
c.673delC
1 paper
NM_001122630.2
p.A204_S212insFs
c.611_635dup25
1 paper
NM_001122630.2
p.A213T
c.637G>A
1 paper
NM_000076.2
p.Q226*
c.676C>T
NM_001122630.2
p.Q215*
c.643C>T
1 paper
NM_001122630.2
p.E214insFs
c.642dupG
3 papers
NM_001122630.2
p.A213fs
c.637_638fs
1 paper
NM_001122630.2
p.S212insFs
c.635dupG
1 paper
NM_001122630.2
p.Q215Fs
c.644delinsGGGFs
1 paper
NM_001122630.2
p.E214_Q215Fs
c.641_644delinsGGGFs
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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."