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

2 papers

NM_001038640.2

p.E513_A514del2

c.1537_1541del6

Surrounding Variants

3 papers

NM_001038640.2

p.E513_A514del1

c.1538_1540delCCT

1 paper

NM_001038640.2

p.T518M

c.1553C>T

1 paper

NM_001038640.2

p.Q505R

c.1514A>G

2 papers

NM_001038640.2

p.Q505E

c.1513C>G

1 paper

NM_001038640.2

p.G504*

c.1510G>T

1 paper

NM_001038640.2

p.G501Splc

c.1502-5T>C

1 paper

NM_001038640.2

p.L497V

c.1489C>G

1 paper

NM_001038640.2

p.Q486P

c.1457A>C

1 paper

NM_001038640.2

p.S533G

c.1597A>G

1 paper

NM_001038640.2

p.V561A

c.1682T>C

1 paper

NM_001038640.2

p.V652D

c.1955T>A

1 paper

NM_001038640.2

p.V662M

c.1984G>A