Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.E274_S276Fs

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.E274_S276Fs
c.822_826delinsGAGCTGFs
Surrounding Variants
1 paper
NM_001122630.2
p.S276P
c.826T>C
1 paper
NM_001122630.2
p.S276delFs
c.826delA
1 paper
NM_001122630.2
p.P273_S276delFs
c.818_827del10
1 paper
NM_001122630.2
p.S277S
c.831G>T
1 paper
NM_001122630.2
p.E274_K275ins7
c.820_824ins21
4 papers
NM_001122630.2
p.E274K
c.820G>A
1 paper
NM_001362474.2
p.A283V
c.848C>T
1 paper
NM_001122630.2
p.A272T
c.814G>A
2 papers
NM_000076.2
p.S282fs
c.844_845fs
2 papers
NM_000076.2
p.S282delFs
c.845delG
1 paper
NM_001122630.2
p.S271L
c.812C>T
5 papers
NM_000076.2
p.S282*
c.845C>G
NM_001122630.2
p.S271*
c.812C>G
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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."