Varaico: Literature-Extracted Genetic Variants

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.Q102*

c.304C>T

Surrounding Variants

1 paper

NM_016129.3

p.Y85C

c.254A>G

1 paper

NM_016129.3

p.T80P

c.238A>C

1 paper

NM_016129.3

p.R63W

c.187C>T

1 paper

NM_016129.3

p.S62L

c.185C>T

1 paper

NM_016129.3

p.V60L

c.178G>C

1 paper

NM_016129.3

p.V60L

c.178G>T

1 paper

NM_016129.3

p.G129R

c.385G>A

1 paper

NM_016129.3

p.G129R

c.385G>C

1 paper

NM_016129.3

p.P131T

c.391C>A

1 paper

NM_016129.3

p.E146D

c.438G>C

1 paper

NM_016129.3

p.E146D

c.438G>T

1 paper

NM_016129.3

p.D160V

c.479A>T