Varaico: Literature-Extracted Genetic Variants

Gene:AP1G2
Variant:p.H576Y

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.H576Y
c.1726C>T
Surrounding Variants
1 paper
NM_003917.5
p.R563W
c.1687C>T
1 paper
NM_003917.5
p.E559fs
c.1675_1676fs
1 paper
NM_001282474.2
p.Q166K
c.496C>A
2 papers
NM_003917.5
p.R546C
c.1636C>T
1 paper
NM_003917.5
p.T536I
c.1607C>T
1 paper
NM_003917.5
p.R590*
c.1768C>T
1 paper
NM_003917.5
p.R524*
c.1570C>T
1 paper
NM_003917.5
p.S621L
c.1862C>T
1 paper
NM_003917.5
p.E494K
c.1480G>A
1 paper
NM_003917.5
p.G632W
c.1894G>T
1 paper
NM_003917.5
p.V637I
c.1909G>A
1 paper
NM_003917.5
p.L643V
c.1927C>G
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