Varaico: Literature-Extracted Genetic Variants

Gene:AP1G1
Variant:p.S549C

AP1G1

65 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 23–574UCSCAdaptin N terminal region
Alpha_adaptinC2aa 705–817UCSCAdaptin C-terminal domain

Gene Aliases

HGNC Name

adaptor related protein complex 1 subunit gamma 1

HGNC Previous Symbols

CLAPG1; ADTG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128.6
p.S549C
c.1646C>G
Surrounding Variants
1 paper
NM_001128.6
p.Y551C
c.1652A>G
1 paper
NM_001128.6
p.S553R
c.1659C>G
1 paper
NM_001128.6
p.R543L
c.1628G>T
1 paper
NM_001128.6
p.A568T
c.1702G>A
1 paper
NM_001128.6
p.P595H
c.1784C>A
1 paper
NM_001128.6
p.T596T
c.1788T>G
1 paper
NM_001128.6
p.T622P
c.1864A>C
1 paper
NM_001128.6
p.S623C
c.1867A>T
1 paper
NM_001128.6
p.N626S
c.1877A>G
1 paper
NM_001128.6
p.D627N
c.1879G>A
1 paper
NM_001128.6
p.D630N
c.1888G>A
1 paper
NM_001128.6
p.T646I
c.1937C>T
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