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

1–12 of 46 variants

4 papers

NM_015044.4

p.A424P

c.1270G>C

2 papers

NM_015044.4

p.A294Splc

c.881-1G>A

1 paper

NM_015044.4

p.A2V

c.5C>T

1 paper

NM_015044.4

p.P22L

c.65C>T

1 paper

NM_015044.4

p.S25S

c.75G>C

1 paper

NM_015044.4

p.N31K

c.93C>G

1 paper

NM_015044.4

p.N31K

c.93C>A

1 paper

NM_015044.4

p.M38K

c.113T>A

1 paper

NM_015044.4

p.S39W

c.116C>G

1 paper

NM_015044.4

p.N54S

c.161A>G

1 paper

NM_015044.4

p.K70E

c.208A>G

1 paper

NM_015044.4

p.K77N

c.231G>C