Varaico: Literature-Extracted Genetic Variants

COPS5

71 papers

RefSeq Summary

The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The struc...

Pfam Domains

JABaa 50–164UCSCJAB1/Mov34/MPN/PAD-1 ubiquitin protease

CSN5_Caa 251–329UCSCCop9 signalosome subunit 5 C-terminal domain

Gene Aliases

HGNC Name

COP9 signalosome subunit 5

HGNC Alias Symbols

JAB1; SGN5; MOV-34; CSN5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 49 variants

8 papers

NM_006837.3

p.D151N

c.451G>A

1 paper

NM_006837.3

p.M1insFs

c.2dupT

1 paper

NM_006837.3

p.A9V

c.26C>T

1 paper

NM_006837.3

p.M19T

c.56T>C

1 paper

NM_006837.3

p.Q20_D26insFs

c.59_77dup19

1 paper

NM_006837.3

p.L63L

c.187C>T

1 paper

NM_006837.3

p.K64R

c.191A>G

1 paper

NM_006837.3

p.S71L

c.212C>T

1 paper

NM_006837.3

p.E76A

c.227A>C

1 paper

NM_006837.3

p.V85A

c.254T>C

1 paper

NM_006837.3

p.P99P

c.297T>A

1 paper

NM_006837.3

p.T103S

c.308C>G