Varaico: Literature-Extracted Genetic Variants

Gene:AP1G2
Variant:p.C713S

AP1G2

59 papers

RefSeq Summary

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of protei...

Pfam Domains

Adaptin_Naa 24–575UCSCAdaptin N terminal region
Alpha_adaptinC2aa 668–780UCSCAdaptin C-terminal domain

Gene Aliases

HGNC Name

adaptor related protein complex 1 subunit gamma 2

HGNC Alias Symbol

G2AD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003917.5
p.C713S
c.2137T>A
Surrounding Variants
1 paper
NM_003917.5
p.C713S
c.2138G>C
1 paper
NM_003917.5
p.L723fs
c.2167_2168fs
1 paper
NM_003917.5
p.T742T
c.2226C>G
1 paper
NM_003917.5
p.P750S
c.2248C>T
1 paper
NM_003917.5
p.L757I
c.2269C>A
1 paper
NM_003917.5
p.R760H
c.2279G>A
1 paper
NM_003917.5
p.I773F
c.2317A>T
1 paper
NM_003917.5
p.P664fs
c.1990_1991fs
1 paper
NM_003917.5
p.L643V
c.1927C>G
1 paper
NM_003917.5
p.V637I
c.1909G>A
1 paper
NM_003917.5
p.G632W
c.1894G>T
1 paper
NM_003917.5
p.S621L
c.1862C>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."