Varaico: Literature-Extracted Genetic Variants

Gene:SYNRG
Variant:p.L241*

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.L241*
c.722T>G
Surrounding Variants
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.K228insFs
c.682_683insAG
1 paper
NM_007247.6
p.H227insFs
c.679_680insAG
1 paper
NM_007247.6
p.T222A
c.664A>G
1 paper
NM_007247.6
p.G277R
c.829G>C
1 paper
NM_007247.6
p.G277R
c.829G>A
1 paper
NM_007247.6
p.P284A
c.850C>G
1 paper
NM_007247.6
p.P290A
c.868C>G
1 paper
NM_007247.6
p.A302G
c.905C>G
1 paper
NM_007247.6
p.G336insFs
c.1007_1008insC
1 paper
NM_007247.6
p.P374A
c.1120C>G
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