Varaico: Literature-Extracted Genetic Variants

Gene:SYNRG
Variant:p.G533*

SYNRG

58 papers

RefSeq Summary

This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-...

Pfam Domains

Spectrin-like_SYNRGaa 143–298UCSCSYNRG, Spectrin-like domain
EHaa 301–387UCSCEH domain
SYNRG_Caa 1120–1308UCSCSynergin gamma, C-terminal domain

Gene Aliases

HGNC Name

synergin gamma

HGNC Previous Symbol

AP1GBP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007247.6
p.G533*
c.1597G>T
Surrounding Variants
1 paper
NM_007247.6
p.V516delFs
c.1546delC
1 paper
NM_007247.6
p.D537H
c.1609G>C
1 paper
NM_007247.6
p.S487R
c.1461T>G
1 paper
NM_007247.6
p.S487R
c.1461T>A
1 paper
NM_007247.6
p.S487R
c.1459A>C
1 paper
NM_007247.6
p.R562R
c.1684A>C
1 paper
NM_007247.6
p.D588E
c.1764C>G
1 paper
NM_007247.6
p.D588E
c.1764C>A
1 paper
NM_007247.6
p.K629R
c.1886A>G
1 paper
NM_007247.6
p.M655I
c.1965G>T
1 paper
NM_007247.6
p.M655I
c.1965G>C
1 paper
NM_007247.6
p.M655I
c.1965G>A
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