Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.E326K

SLC18A3

123 papers

RefSeq Summary

This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylchol...

Pfam Domains

MFS_1aa 39–424UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 18 member A3

HGNC Alias Symbol

VACHT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003055.3
p.E326K
c.976G>A
Surrounding Variants
1 paper
NM_003055.3
p.A322S
c.964G>T
1 paper
NM_003055.3
p.A330V
c.989C>T
1 paper
NM_003055.3
p.F335Y
c.1004T>A
2 papers
NM_003055.3
p.W315*
c.945G>A
2 papers
NM_003055.3
p.W315*
c.944G>A
3 papers
NM_003055.3
p.H338D
c.1012C>G
1 paper
NM_003055.3
p.H338Y
c.1012C>T
1 paper
NM_003055.3
p.H338R
c.1013A>G
1 paper
NM_003055.3
p.E309D
c.927A>C
1 paper
NM_003055.3
p.E309D
c.927A>T
1 paper
NM_003055.3
p.E309A
c.926A>C
1 paper
NM_003055.3
p.E309K
c.925G>A
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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."