Varaico: Literature-Extracted Genetic Variants

Gene:COPS4
Variant:p.H19Y

COPS4

32 papers

RefSeq Summary

This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and functi...

Pfam Domains

PSMD12-CSN4_Naa 4–220UCSCPSMD12/CSN4, N-terminal
PCIaa 278–363UCSCPCI domain
CSN4_RPN5_eIF3aaa 365–406UCSCCSN4/RPN5/eIF3a helix turn helix domain

Gene Aliases

HGNC Name

COP9 signalosome subunit 4

HGNC Alias Symbols

CSN4; SGN4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016129.3
p.H19Y
c.55C>T
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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."