Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.D288N

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
1 paper
NM_003055.3
p.D288N
c.862G>A
Surrounding Variants
1 paper
NM_003055.3
p.P281P
c.843C>A
1 paper
NM_003055.3
p.P281T
c.841C>A
1 paper
NM_003055.3
p.A306V
c.917C>T
1 paper
NM_003055.3
p.A269insFs
c.806_807insC
1 paper
NM_003055.3
p.F307Y
c.920T>A
1 paper
NM_003055.3
p.L308R
c.923T>G
1 paper
NM_003055.3
p.E309K
c.925G>A
1 paper
NM_003055.3
p.E309Q
c.925G>C
1 paper
NM_003055.3
p.E309A
c.926A>C
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.A263insFs
c.788_789insC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."