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

1–12 of 30 variants

4 papers

NM_001038640.2

p.W200R

c.598T>C

3 papers

NM_001038640.2

p.W200R

c.598T>A

3 papers

NM_001038640.2

p.E513_A514del1

c.1538_1540delCCT

2 papers

NM_001038640.2

p.E171_L172delFs

c.513_514delAT

2 papers

NM_001038640.2

p.A351V

c.1052C>T

2 papers

NM_001038640.2

p.Q505E

c.1513C>G

2 papers

NM_001038640.2

p.E513_A514del2

c.1537_1541del6

1 paper

NM_001038640.2

p.I40V

c.118A>G

1 paper

NM_001038640.2

p.K45N

c.135G>T

1 paper

NM_001038640.2

p.K45N

c.135G>C

1 paper

NM_001038640.2

p.D52G

c.155A>G

1 paper

NM_001038640.2

p.R149Q

c.446G>A