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.I228S

c.683T>G

Surrounding Variants

1 paper

NM_003653.4

p.L221*

c.662T>A

1 paper

NM_003653.4

p.E274V

c.821A>T

1 paper

NM_003653.4

p.A201V

c.602C>T

1 paper

NM_003653.4

p.I191I

c.573C>T

1 paper

NM_003653.4

p.G189V

c.566G>T

1 paper

NM_003653.4

p.Y187F

c.560A>T

1 paper

NM_003653.4

p.K171E

c.511A>G

1 paper

NM_003653.4

p.A158P

c.472G>C

1 paper

NM_003653.4

p.L148H

c.443T>A

1 paper

NM_003653.4

p.L317V

c.949C>G

1 paper

NM_003653.4

p.V338A

c.1013T>C

1 paper

NM_003653.4

p.M341_I342Splc

c.1023+986T>G