Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.D399A

SLC18A2

163 papers

RefSeq Summary

This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neuro...

Pfam Domains

MFS_1aa 22–425UCSCMajor Facilitator Superfamily
MFS_1aa 300–482UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 18 member A2

HGNC Previous Symbol

VMAT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003054.6
p.D399A
c.1196A>C
Surrounding Variants
2 papers
NM_003054.6
p.D399N
c.1195G>A
1 paper
NM_003054.6
p.S400L
c.1199C>T
2 papers
NM_003054.6
p.D411N
c.1231G>A
1 paper
NM_003054.6
p.D411A
c.1232A>C
1 paper
NM_003054.6
p.L412L
c.1234C>T
1 paper
NM_003054.6
p.R413G
c.1237C>G
3 papers
NM_003054.6
p.Y418S
c.1253A>C
2 papers
NM_003054.6
p.Y418C
c.1253A>G
1 paper
NM_003054.6
p.Y418Y
c.1254T>C
1 paper
NM_003054.6
p.V421M
c.1261G>A
1 paper
NM_003054.6
p.Y422C
c.1265A>G
2 papers
NM_003054.6
p.D426N
c.1276G>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."