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

Selected Variant

1 paper

NM_006837.3

p.R187W

c.559A>T

Surrounding Variants

1 paper

NM_006837.3

p.F186delFs

c.557_558delAA

1 paper

NM_006837.3

p.F186fs

c.556_557fs

1 paper

NM_006837.3

p.V168M

c.502G>A

1 paper

NM_006837.3

p.V166L

c.496G>T

1 paper

NM_006837.3

p.V166L

c.496G>C

8 papers

NM_006837.3

p.D151N

c.451G>A

1 paper

NM_006837.3

p.G192R

c.574G>C

1 paper

NM_006837.3

p.I134V

c.400A>G

1 paper

NM_006837.3

p.N209K

c.627T>G

1 paper

NM_006837.3

p.N209K

c.627T>A

1 paper

NM_006837.3

p.I211K

c.632T>A

1 paper

NM_006837.3

p.C218R

c.652T>C