Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.D74delFs

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.D74delFs
c.221_222delGT
NM_000076.2
p.D85delFs
c.254_255delGT
Surrounding Variants
1 paper
NM_001122630.2
p.S73delFs
c.218delC
1 paper
NM_001122630.2
p.S75_V76del2
c.223_227del6
1 paper
NM_000076.2
p.A89insFs
c.265_266insCC
NM_001122630.2
p.P88_A89insFs
c.264_265insCC
1 paper
NM_001122630.2
p.T69_E70delFs
c.206_210del5
1 paper
NM_001122630.2
p.E70*
c.208G>T
2 papers
NM_001122630.2
p.Q67_W68delFs
c.200_204del5
1 paper
NM_000076.2
p.T80P
c.238A>C
1 paper
NM_000076.2
p.W79C
c.237G>T
1 paper
NM_000076.2
p.R92insFs
c.275_276ins7
1 paper
NM_000076.2
p.W79C
c.237G>C
1 paper
NM_000076.2
p.W79*
c.237G>A
1 paper
NM_000076.2
p.W79S
c.236G>C
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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."