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

Selected Variant

1 paper

NM_181077.5

p.P563R

c.1688C>G

Surrounding Variants

1 paper

NM_181077.5

p.V568L

c.1702G>C

1 paper

NM_181077.5

p.V568I

c.1702G>A

1 paper

NM_181077.5

p.V569L

c.1705G>T

1 paper

NM_181077.5

p.V569L

c.1705G>C

1 paper

NM_181077.5

p.R555G

c.1663A>G

1 paper

NM_181077.5

p.D537Splc

c.1610-13C>T

1 paper

NM_181077.5

p.A516V

c.1547C>T

2 papers

NM_181077.5

p.R513Q

c.1538G>A

1 paper

NM_181077.5

p.S502N

c.1505G>A

3 papers

NM_181077.5

p.D493N

c.1477G>A

5 papers

NM_181077.5

p.A488V

c.1463C>T

3 papers

NM_181077.5

p.Q480R

c.1439A>G