Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2

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
1–12 of 206 variants
21 papers
NM_003054.6
p.P387L
c.1160C>T
17 papers
NM_003054.6
p.P237H
c.710C>A
7 papers
NM_003054.6
p.P316A
c.946C>G
5 papers
NM_003054.6
p.V232L
c.694G>C
4 papers
NM_003054.6
p.L37F
c.109C>T
4 papers
NM_003054.6
p.I43F
c.127A>T
4 papers
NM_003054.6
p.E312Q
c.934G>C
4 papers
NM_003054.6
p.D399A
c.1196A>C
3 papers
NM_003054.6
p.D33N
c.97G>A
3 papers
NM_003054.6
p.Q61*
c.181C>T
3 papers
NM_003054.6
p.R189K
c.566G>A
3 papers
NM_003054.6
p.A309V
c.926C>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."