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.R542S

c.1626A>C

Surrounding Variants

1 paper

NM_004766.3

p.R542S

c.1626A>T

1 paper

NM_004766.3

p.V524V

c.1572G>A

1 paper

NM_004766.3

p.I567fs

c.1699_1700fs

1 paper

NM_004766.3

p.P568T

c.1702C>A

1 paper

NM_004766.3

p.E579*

c.1735G>T

2 papers

NM_004766.3

p.I583V

c.1747A>G

1 paper

NM_004766.3

p.R600W

c.1798C>T

1 paper

NM_004766.3

p.K627N

c.1881G>T

1 paper

NM_004766.3

p.K627N

c.1881G>C

1 paper

NM_004766.3

p.H467Q

c.1401T>G

1 paper

NM_004766.3

p.H467Q

c.1401T>A

1 paper

NM_004766.3

p.E456V

c.1367A>T