Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3

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
1–12 of 156 variants
9 papers
NM_003055.3
p.D398H
c.1192G>C
6 papers
NM_003055.3
p.G186A
c.557G>C
5 papers
NM_003055.3
p.G360R
c.1078G>C
4 papers
NM_003055.3
p.V52F
c.154G>T
4 papers
NM_003055.3
p.C372*
c.1116C>A
4 papers
NM_003055.3
p.D398N
c.1192G>A
4 papers
NM_003055.3
p.D398E
c.1194C>A
4 papers
NM_003055.3
p.D398E
c.1194C>G
4 papers
NM_003055.3
p.D425N
c.1273G>A
4 papers
NM_003055.3
p.S480A
c.1438T>G
3 papers
NM_003055.3
p.A24insFs
c.70_71insG
3 papers
NM_003055.3
p.W78*
c.233G>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."