Varaico: Literature-Extracted Genetic Variants

Gene:AP1G2
Variant:p.R346Q

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
3 papers
NM_003917.5
p.R346Q
c.1037G>A
Surrounding Variants
1 paper
NM_003917.5
p.R335*
c.1003C>T
4 papers
NM_003917.5
p.S377F
c.1130C>T
1 paper
NM_003917.5
p.A304G
c.911C>G
1 paper
NM_003917.5
p.R301C
c.901C>T
1 paper
NM_003917.5
p.A440T
c.1318G>A
1 paper
NM_003917.5
p.I446T
c.1337T>C
1 paper
NM_003917.5
p.G447W
c.1339G>T
1 paper
NM_003917.5
p.L452L
c.1354C>T
1 paper
NM_003917.5
p.R459H
c.1376G>A
1 paper
NM_003917.5
p.I468F
c.1402A>T
2 papers
NM_003917.5
p.Q274_V275Splc
c.822+1G>A
1 paper
NM_003917.5
p.D243N
c.727G>A
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