Varaico: Literature-Extracted Genetic Variants

GOLGA8A

27 papers

RefSeq Summary

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisterna...

Pfam Domains

GOLGA2L5aa 218–367UCSCPutative golgin subfamily A member 2-like protein 5

GM130_Caa 557–602UCSCGM130 C-terminal binding motif

Gene Aliases

HGNC Name

golgin A8 family member A

HGNC Alias Symbols

GM88; GOLGIN-67; FAP286; CFAP286

Papers

RefSeq ID

Protein change

DNA change

1–12 of 27 variants

5 papers

NM_181077.5

p.A488V

c.1463C>T

3 papers

NM_181077.5

p.Q480R

c.1439A>G

3 papers

NM_181077.5

p.D493N

c.1477G>A

2 papers

NM_181077.5

p.A47T

c.139G>A

2 papers

NM_181077.5

p.A60T

c.178G>A

2 papers

NM_181077.5

p.R67P

c.200G>C

2 papers

NM_181077.5

p.R455C

c.1363C>T

2 papers

NM_181077.5

p.R513Q

c.1538G>A

1 paper

NM_181077.5

p.K16M

c.47A>T

1 paper

NM_181077.5

p.A56_S57Splc

c.169-149A>G

1 paper

NM_181077.5

p.S57Y

c.170C>A

1 paper

NM_181077.5

p.A66V

c.197C>T