Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.L124R

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
1 paper
NM_003054.6
p.L124R
c.371T>G
Surrounding Variants
1 paper
NM_003054.6
p.L125R
c.374T>G
2 papers
NM_003054.6
p.E127A
c.380A>C
1 paper
NM_003054.6
p.D121Y
c.361G>T
1 paper
NM_003054.6
p.E120K
c.358G>A
1 paper
NM_003054.6
p.V129A
c.386T>C
1 paper
NM_003054.6
p.V129V
c.387G>A
1 paper
NM_003054.6
p.Q130K
c.388C>A
1 paper
NM_003054.6
p.G132C
c.394G>T
1 paper
NM_003054.6
p.D116G
c.347A>G
1 paper
NM_003054.6
p.K138Q
c.412A>C
1 paper
NM_003054.6
p.V107V
c.321G>A
1 paper
NM_003054.6
p.T103T
c.309A>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."