Varaico: Literature-Extracted Genetic Variants

GGA3

71 papers

RefSeq Summary

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

Pfam Domains

VHSaa 3–142UCSCVHS domain

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

GATaa 222–299UCSCGAT domain

Alpha_adaptinC2aa 597–715UCSCAdaptin C-terminal domain

Gene Aliases

HGNC Name

golgi associated, gamma adaptin ear containing, ARF binding protein 3

HGNC Alias Symbol

KIAA0154

Papers

RefSeq ID

Protein change

DNA change

1–12 of 74 variants

4 papers

NM_138619.4

p.L280R

c.839T>G

3 papers

NM_138619.4

p.D284G

c.851A>G

2 papers

NM_138619.4

p.E230A

c.689A>C

2 papers

NM_138619.4

p.L276S

c.827T>C

2 papers

NM_138619.4

p.S283N

c.848G>A

1 paper

NM_138619.4

p.M1I

c.3G>T

1 paper

NM_138619.4

p.M1I

c.3G>C

1 paper

NM_138619.4

p.M1I

c.3G>A

1 paper

NM_138619.4

p.G6R

c.16G>C

1 paper

NM_138619.4

p.G6R

c.16G>A

1 paper

NM_138619.4

p.E10V

c.29A>T

1 paper

NM_138619.4

p.N21S

c.62A>G