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.S237*

c.710C>A

Surrounding Variants

1 paper

NM_016129.3

p.S237*

c.710C>G

1 paper

NM_016129.3

p.G239W

c.715G>T

1 paper

NM_016129.3

p.D196H

c.586G>C

1 paper

NM_016129.3

p.N169T

c.506A>C

1 paper

NM_016129.3

p.P161Q

c.482C>A

1 paper

NM_016129.3

p.D160V

c.479A>T

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.L249_F250del0

c.745_750del6

1 paper

NM_016129.3

p.L249V

c.745C>G

1 paper

NM_016129.3

p.L249_K251del0

c.746_751del6

1 paper

NM_016129.3

p.L264L

c.792A>G