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.Y81C

c.242A>G

Surrounding Variants

1 paper

NM_015044.4

p.Y81H

c.241T>C

1 paper

NM_015044.4

p.L83I

c.247T>A

1 paper

NM_015044.4

p.K77N

c.231G>C

1 paper

NM_015044.4

p.K70E

c.208A>G

1 paper

NM_015044.4

p.R105C

c.313C>T

1 paper

NM_015044.4

p.R105G

c.313C>G

1 paper

NM_015044.4

p.R105L

c.314G>T

1 paper

NM_015044.4

p.N54S

c.161A>G

1 paper

NM_015044.4

p.S39W

c.116C>G

1 paper

NM_015044.4

p.M38K

c.113T>A

1 paper

NM_015044.4

p.N31K

c.93C>G

1 paper

NM_015044.4

p.N31K

c.93C>A