Varaico: Literature-Extracted Genetic Variants

GGA1

58 papers

RefSeq Summary

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of ...

Pfam Domains

VHSaa 5–143UCSCVHS domain

GGA_N-GATaa 169–207UCSCN-terminal extension of GAT domain

GATaa 222–300UCSCGAT domain

Gene Aliases

HGNC Name

golgi associated, gamma adaptin ear containing, ARF binding protein 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_013365.5

p.P552insFs

c.1656dupC

Surrounding Variants

1 paper

NM_013365.5

p.S549I

c.1646G>T

1 paper

NM_013365.5

p.Q553fs

c.1657_1658fs

1 paper

NM_013365.5

p.F560F

c.1680C>T

1 paper

NM_013365.5

p.Q561Q

c.1683G>A

1 paper

NM_013365.5

p.S562T

c.1684T>A

1 paper

NM_013365.5

p.A563D

c.1688C>A

1 paper

NM_013365.5

p.V564_P565insT

c.1690_1694ins3

1 paper

NM_013365.5

p.R537R

c.1611C>G

1 paper

NM_013365.5

p.V564D

c.1691T>A

1 paper

NM_013365.5

p.P533P

c.1599A>G

1 paper

NM_013365.5

p.V570E

c.1709T>A

1 paper

NM_013365.5

p.V587I

c.1759G>A