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.A106fs

c.316_317fs

Surrounding Variants

1 paper

NM_001164094.2

p.V102G

c.305T>G

1 paper

NM_001164094.2

p.L99R

c.296T>G

1 paper

NM_001164094.2

p.H98R

c.293A>G

1 paper

NM_001164094.2

p.A91T

c.271G>A

1 paper

NM_001164094.2

p.A82G

c.245C>G

1 paper

NM_001164094.2

p.A56T

c.166G>A

1 paper

NM_001164094.2

p.E54_L55Splc

c.163-5C>T

1 paper

NM_001164094.2

p.L117L

c.349C>T

1 paper

NM_001164094.2

p.E118D

c.354G>C

1 paper

NM_001164094.2

p.E118D

c.354G>T

1 paper

NM_001164094.2

p.R126Q

c.377G>A

1 paper

NM_001164094.2

p.D130N

c.388G>A