Varaico: Literature-Extracted Genetic Variants

COPS6

40 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 36–148UCSCJAB1/Mov34/MPN/PAD-1 ubiquitin protease

MitMem_regaa 194–307UCSCMaintenance of mitochondrial structure and function

Gene Aliases

HGNC Name

COP9 signalosome subunit 6

HGNC Alias Symbols

MOV34-34KD; CSN6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006833.5

p.G63R

c.187G>C

Surrounding Variants

1 paper

NM_006833.5

p.G63R

c.187G>A

1 paper

NM_006833.5

p.R57G

c.169C>G

1 paper

NM_006833.5

p.D53G

c.158A>G

1 paper

NM_006833.5

p.S52S

c.156A>C

1 paper

NM_006833.5

p.G34*

c.100G>T

1 paper

NM_006833.5

p.Q76L

c.227A>T

1 paper

NM_006833.5

p.E88G

c.263A>G

1 paper

NM_006833.5

p.S91P

c.271T>C

1 paper

NM_006833.5

p.E95D

c.285A>C

1 paper

NM_006833.5

p.E95D

c.285A>T

1 paper

NM_006833.5

p.D101A

c.302A>C

1 paper

NM_006833.5

p.D23_A24ins15

c.67_71ins45