Varaico: Literature-Extracted Genetic Variants

GGA1

58 papers

RefSeq Summary

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

Pfam Domains

VHSaa 5–143UCSCVHS domain

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

GATaa 222–300UCSCGAT domain

Gene Aliases

HGNC Name

golgi associated, gamma adaptin ear containing, ARF binding protein 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 74 variants

3 papers

NM_013365.5

p.N284S

c.851A>G

2 papers

NM_013365.5

p.L178R

c.533T>G

2 papers

NM_013365.5

p.D189A

c.566A>C

2 papers

NM_013365.5

p.A193T

c.577G>A

2 papers

NM_013365.5

p.V201E

c.602T>A

2 papers

NM_013365.5

p.D358A

c.1073A>C

2 papers

NM_013365.5

p.P552insFs

c.1656dupC

1 paper

NM_013365.5

p.N15Splc

c.43+4A>C

1 paper

NM_013365.5

p.D26N

c.76G>A

1 paper

NM_013365.5

p.T68_V69Splc

c.204+1G>A

1 paper

NM_013365.5

p.R89C

c.265C>T

1 paper

NM_013365.5

p.S99F

c.296C>T