Varaico: Literature-Extracted Genetic Variants

Gene:GGA1
Variant:p.E360A

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
VHSaa 5–143UCSCVHS domain
GGA_N-GATaa 169–207UCSCN-terminal extension of GAT domain
GGA_N-GATaa 169–207UCSCN-terminal extension of GAT domain
GATaa 222–300UCSCGAT 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
Selected Variant
1 paper
NM_013365.5
p.E360A
c.1079A>C
Surrounding Variants
1 paper
NM_013365.5
p.D359A
c.1076A>C
2 papers
NM_013365.5
p.D358A
c.1073A>C
1 paper
NM_013365.5
p.M362I
c.1086G>A
1 paper
NM_013365.5
p.M362I
c.1086G>C
1 paper
NM_013365.5
p.M362I
c.1086G>T
1 paper
NM_013365.5
p.S355A
c.1063T>G
1 paper
NM_013365.5
p.T316P
c.946A>C
1 paper
NM_013365.5
p.Q296L
c.887A>T
1 paper
NM_013365.5
p.K295M
c.884A>T
1 paper
NM_013365.5
p.Q289R
c.866A>G
3 papers
NM_013365.5
p.N284S
c.851A>G
1 paper
NM_013365.5
p.A278Splc
c.832+1262G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."