Varaico: Literature-Extracted Genetic Variants

Gene:AP1G2
Variant:p.R137*

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.R137*
c.409C>T
Surrounding Variants
1 paper
NM_003917.5
p.E144D
c.432G>T
1 paper
NM_003917.5
p.E144D
c.432G>C
1 paper
NM_003917.5
p.G121S
c.361G>A
2 papers
NM_001282475.2
p.R26H
c.77G>A
NM_003917.5
p.R155H
c.464G>A
1 paper
NM_003917.5
p.K157R
c.470A>G
1 paper
NM_003917.5
p.N110Splc
c.329+15G>C
1 paper
NM_003917.5
p.V169L
c.505G>C
1 paper
NM_003917.5
p.V175F
c.523G>T
1 paper
NM_003917.5
p.S107C
c.319A>T
1 paper
NM_003917.5
p.P178L
c.533C>T
1 paper
NM_003917.5
p.L88P
c.263T>C
1 paper
NM_003917.5
p.Y87H
c.259T>C
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