Varaico: Literature-Extracted Genetic Variants

GGA2

56 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 20–159UCSCVHS domain

GGA_N-GATaa 185–224UCSCN-terminal extension of GAT domain

GATaa 239–316UCSCGAT domain

Alpha_adaptinC2aa 487–605UCSCAdaptin C-terminal domain

Gene Aliases

HGNC Name

golgi associated, gamma adaptin ear containing, ARF binding protein 2

HGNC Alias Symbols

VEAR; KIAA1080

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015044.4

p.K311K

c.933A>G

Surrounding Variants

1 paper

NM_015044.4

p.R317Q

c.950G>A

1 paper

NM_015044.4

p.T325I

c.974C>T

2 papers

NM_015044.4

p.A294Splc

c.881-1G>A

1 paper

NM_015044.4

p.N339S

c.1016A>G

1 paper

NM_015044.4

p.A374T

c.1120G>A

1 paper

NM_015044.4

p.G377E

c.1130G>A

1 paper

NM_015044.4

p.L293L

c.879C>T

1 paper

NM_015044.4

p.D288N

c.862G>A

1 paper

NM_015044.4

p.T287T

c.861T>G

1 paper

NM_015044.4

p.Q390*

c.1168C>T

1 paper

NM_015044.4

p.R281Q

c.842G>A

1 paper

NM_015044.4

p.S402I

c.1205G>T