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.Y116N

c.346T>A

Surrounding Variants

1 paper

NM_006837.3

p.Y116D

c.346T>G

1 paper

NM_006837.3

p.E115D

c.345A>T

1 paper

NM_006837.3

p.E115D

c.345A>C

1 paper

NM_006837.3

p.E115A

c.344A>C

1 paper

NM_006837.3

p.A112D

c.335C>A

1 paper

NM_006837.3

p.Y120D

c.358T>G

1 paper

NM_006837.3

p.A112T

c.334G>A

1 paper

NM_006837.3

p.E122A

c.365A>C

1 paper

NM_006837.3

p.E122D

c.366A>T

1 paper

NM_006837.3

p.E122D

c.366A>C

1 paper

NM_006837.3

p.A124A

c.372A>G

1 paper

NM_006837.3

p.R106*

c.316C>T