Varaico: Literature-Extracted Genetic Variants

GOLGA6A

32 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 cisternae (flattened membrane sacs). Interaction...

Pfam Domains

GOLGA2L5aa 217–363UCSCPutative golgin subfamily A member 2-like protein 5

GOLGA2L5aa 457–536UCSCPutative golgin subfamily A member 2-like protein 5

GOLGA2L5aa 530–628UCSCPutative golgin subfamily A member 2-like protein 5

Gene Aliases

HGNC Name

golgin A6 family member A

HGNC Previous Symbol

GOLGA6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001038640.2

p.S189T

c.565T>A

Surrounding Variants

1 paper

NM_001038640.2

p.R199W

c.595C>T

4 papers

NM_001038640.2

p.W200R

c.598T>C

3 papers

NM_001038640.2

p.W200R

c.598T>A

1 paper

NM_001038640.2

p.Q202K

c.604C>A

1 paper

NM_001038640.2

p.P286T

c.856C>A

2 papers

NM_001038640.2

p.E171_L172delFs

c.513_514delAT

1 paper

NM_001038640.2

p.L318V

c.952C>G

2 papers

NM_001038640.2

p.A351V

c.1052C>T

1 paper

NM_001038640.2

p.R149Q

c.446G>A

1 paper

NM_001038640.2

p.Q470*

c.1408C>T

1 paper

NM_001038640.2

p.Q486P

c.1457A>C

1 paper

NM_001038640.2

p.L497V

c.1489C>G