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

Selected Variant

1 paper

NM_138619.4

p.K132R

c.395A>G

Surrounding Variants

1 paper

NM_138619.4

p.E116E

c.348G>A

1 paper

NM_138619.4

p.P151L

c.452C>T

1 paper

NM_138619.4

p.D171V

c.512A>T

1 paper

NM_138619.4

p.L178Fs

c.532delinsGCFs

1 paper

NM_138619.4

p.A179A

c.537C>A

1 paper

NM_138619.4

p.N186S

c.557A>G

1 paper

NM_138619.4

p.D189A

c.566A>C

1 paper

NM_138619.4

p.A193T

c.577G>A

1 paper

NM_138619.4

p.S199P

c.595T>C

1 paper

NM_138619.4

p.V201E

c.602T>A

1 paper

NM_138619.4

p.T217P

c.649A>C

2 papers

NM_138619.4

p.E230A

c.689A>C