Varaico: Literature-Extracted Genetic Variants

Gene:GGA1
Variant:p.N15Splc

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.N15Splc
c.43+4A>C
Surrounding Variants
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."