Varaico: Literature-Extracted Genetic Variants

COPS3

25 papers

RefSeq Summary

The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site ...

Pfam Domains

COP9_hel_rptaa 18–249UCSCCOP9 signalosome complex subunit 3, N-terminal helical repeats

PCIaa 279–362UCSCPCI domain

CSN3-like_Caa 369–396UCSCCOP9 signalosome complex subunit 3-like, C-terminal helix

Gene Aliases

HGNC Name

COP9 signalosome subunit 3

HGNC Alias Symbol

SGN3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003653.4

p.N352K

c.1056C>G

Surrounding Variants

1 paper

NM_003653.4

p.I347S

c.1040T>G

1 paper

NM_003653.4

p.M341_I342Splc

c.1024-10C>T

1 paper

NM_003653.4

p.M341_I342Splc

c.1023+986T>G

1 paper

NM_003653.4

p.V338A

c.1013T>C

1 paper

NM_003653.4

p.L317V

c.949C>G