Varaico: Literature-Extracted Genetic Variants

Gene:SYNRG
Variant:p.F836S

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.F836S
c.2507T>C
Surrounding Variants
1 paper
NM_007247.6
p.E829Q
c.2485G>C
1 paper
NM_007247.6
p.I818M
c.2454T>G
1 paper
NM_007247.6
p.F800V
c.2398T>G
1 paper
NM_007247.6
p.G794V
c.2381G>T
1 paper
NM_007247.6
p.D773H
c.2317G>C
1 paper
NM_007247.6
p.G770*
c.2308G>T
1 paper
NM_007247.6
p.G759A
c.2276G>C
1 paper
NM_007247.6
p.D746N
c.2236G>A
1 paper
NM_007247.6
p.Y712C
c.2135A>G
1 paper
NM_007247.6
p.P708L
c.2123C>T
1 paper
NM_007247.6
p.L682_A683insAG
c.2044_2048ins6
1 paper
NM_007247.6
p.Y679_S680insAG
c.2035_2039ins6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."