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.D189A

c.566A>C

Surrounding Variants

1 paper

NM_013365.5

p.E188A

c.563A>C

2 papers

NM_013365.5

p.A193T

c.577G>A

1 paper

NM_013365.5

p.S185A

c.553T>G

1 paper

NM_013365.5

p.K198E

c.592A>G

1 paper

NM_013365.5

p.K198*

c.592A>T

2 papers

NM_013365.5

p.L178R

c.533T>G

2 papers

NM_013365.5

p.V201E

c.602T>A

1 paper

NM_013365.5

p.D204A

c.611A>C

1 paper

NM_013365.5

p.M208I

c.624G>A

1 paper

NM_013365.5

p.M208I

c.624G>C

1 paper

NM_013365.5

p.M208I

c.624G>T

1 paper

NM_013365.5

p.S212L

c.635C>T