Varaico: Literature-Extracted Genetic Variants

COPS7A

32 papers

RefSeq Summary

This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transc...

Pfam Domains

CSN7_HB_subdomaa 13–44UCSCCSN7 helical bundle subdomain

PCIaa 73–155UCSCPCI domain

CSN7a_helixIaa 166–215UCSCCOP9 signalosome complex subunit 7a helix I domain

Gene Aliases

HGNC Name

COP9 signalosome subunit 7A

HGNC Alias Symbol

CSN7A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001164094.2

p.V192V

c.576G>A

Surrounding Variants

1 paper

NM_001164094.2

p.R194L

c.581G>T

1 paper

NM_001164094.2

p.L205L

c.613C>T

1 paper

NM_001164094.2

p.L205R

c.614T>G

1 paper

NM_001164094.2

p.C178Y

c.533G>A

1 paper

NM_001164094.2

p.T224M

c.671C>T

1 paper

NM_001164094.2

p.Q237E

c.709C>G

1 paper

NM_001164094.2

p.Q237H

c.711A>C

1 paper

NM_001164094.2

p.Q237H

c.711A>T

1 paper

NM_001164094.2

p.L242P

c.725T>C

2 papers

NM_001164094.2

p.L264I

c.790C>A

1 paper

NM_001164094.2

p.G266E

c.797G>A

1 paper

NM_001164094.2

p.R172R

c.514C>A