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.A10G

c.29C>G

Surrounding Variants

2 papers

NM_006833.5

p.A10del1

c.28_29delGCT

1 paper

NM_006833.5

p.A8G

c.23C>G

1 paper

NM_006833.5

p.T14A

c.40A>G

1 paper

NM_006833.5

p.A8ins5

c.23_24ins15

1 paper

NM_006833.5

p.A7_A8ins0

c.21_23dupGGC

1 paper

NM_006833.5

p.A6_A8ins1

c.18_23dup6

2 papers

NM_006833.5

p.A7_A8del1

c.21_23delGGC

1 paper

NM_006833.5

p.A3_A5del3

c.7_14del9

1 paper

NM_006833.5

p.D23_A24ins15

c.67_71ins45

1 paper

NM_006833.5

p.G34*

c.100G>T

1 paper

NM_006833.5

p.S52S

c.156A>C

1 paper

NM_006833.5

p.D53G

c.158A>G