Varaico: Literature-Extracted Genetic Variants

Gene:SYNRG
Variant:p.P109R

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.P109R
c.326C>G
Surrounding Variants
1 paper
NM_007247.6
p.D114A
c.341A>C
1 paper
NM_007247.6
p.R138T
c.413G>C
1 paper
NM_007247.6
p.R140K
c.419G>A
1 paper
NM_007247.6
p.D182N
c.544G>A
1 paper
NM_007247.6
p.K194M
c.581A>T
1 paper
NM_007247.6
p.T222A
c.664A>G
1 paper
NM_007247.6
p.H227insFs
c.679_680insAG
1 paper
NM_007247.6
p.K228insFs
c.682_683insAG
1 paper
NM_007247.6
p.L241*
c.722T>G
1 paper
NM_007247.6
p.L241*
c.722T>A
1 paper
NM_007247.6
p.M242V
c.724A>G
1 paper
NM_007247.6
p.Q61*
c.181C>T
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