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.M1_P2Splc

c.4-6T>C

Surrounding Variants

1 paper

NM_004766.3

p.M1_P2Splc

c.4-1G>T

2 papers

NM_004766.3

p.M1_P2Splc

c.4-1G>A

1 paper

NM_004766.3

p.R17insFs

c.50dupG

1 paper

NM_004766.3

p.P25del1

c.73_74delAGG

1 paper

NM_004766.3

p.T26T

c.78A>G

1 paper

NM_004766.3

p.E27_P28insG

c.79_83ins3

1 paper

NM_004766.3

p.S33_Y35Fs

c.98_104delinsTCCFs

1 paper

NM_004766.3

p.T46K

c.137C>A

1 paper

NM_004766.3

p.Q47_T48Splc

c.142-1G>A

1 paper

NM_004766.3

p.V50G

c.149T>G

1 paper

NM_004766.3

p.F65L

c.193T>C

1 paper

NM_004766.3

p.F65L

c.195T>G