Varaico: Literature-Extracted Genetic Variants

COPB2

96 papers

RefSeq Summary

The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, includi...

Pfam Domains

WD40aa 6–43UCSCWD domain, G-beta repeat

WD40aa 47–85UCSCWD domain, G-beta repeat

WD40aa 89–127UCSCWD domain, G-beta repeat

WD40aa 132–171UCSCWD domain, G-beta repeat

WD40aa 175–215UCSCWD domain, G-beta repeat

WD40aa 219–257UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

coat protein complex I subunit beta 2

HGNC Alias Symbols

beta'-COP; betaprime-COP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004766.3

p.E292delFs

c.874delC

Surrounding Variants

1 paper

NM_004766.3

p.E292insFs

c.874_875insA

1 paper

NM_004766.3

p.K298_L299Splc

c.894+2T>A

3 papers

NM_004766.3

p.S283*

c.848C>G

3 papers

NM_004766.3

p.S283*

c.848C>A

5 papers

NM_004766.3

p.R254C

c.760C>T

1 paper

NM_004766.3

p.L341F

c.1023G>T

1 paper

NM_004766.3

p.L341F

c.1023G>C

1 paper

NM_004766.3

p.V345I

c.1033G>A

1 paper

NM_004766.3

p.Q359*

c.1075C>T

1 paper

NM_004766.3

p.G227E

c.680G>A

1 paper

NM_004766.3

p.Y216_Q217insA

c.646_650ins3

1 paper

NM_004766.3

p.R209G

c.625C>G