Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.D398H

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
9 papers
NM_003055.3
p.D398H
c.1192G>C
Surrounding Variants
4 papers
NM_003055.3
p.D398N
c.1192G>A
3 papers
NM_003055.3
p.D398A
c.1193A>C
1 paper
NM_003055.3
p.D398G
c.1193A>G
4 papers
NM_003055.3
p.D398E
c.1194C>A
4 papers
NM_003055.3
p.D398E
c.1194C>G
2 papers
NM_003055.3
p.C391Y
c.1172G>A
1 paper
NM_003055.3
p.A406S
c.1216G>T
1 paper
NM_003055.3
p.D410N
c.1228G>A
1 paper
NM_003055.3
p.R412S
c.1234C>A
1 paper
NM_003055.3
p.R412C
c.1234C>T
1 paper
NM_003055.3
p.P382T
c.1144C>A
1 paper
NM_003055.3
p.A381V
c.1142C>T
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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."