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.S71L

c.212C>T

Surrounding Variants

1 paper

NM_006837.3

p.E76A

c.227A>C

1 paper

NM_006837.3

p.K64R

c.191A>G

1 paper

NM_006837.3

p.L63L

c.187C>T

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

1 paper

NM_006837.3

p.R106*

c.316C>T

1 paper

NM_006837.3

p.A112T

c.334G>A

1 paper

NM_006837.3

p.A112D

c.335C>A

1 paper

NM_006837.3

p.E115A

c.344A>C

1 paper

NM_006837.3

p.E115D

c.345A>T

1 paper

NM_006837.3

p.E115D

c.345A>C