Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.E312Q

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.E312Q
c.934G>C
Surrounding Variants
3 papers
NM_003054.6
p.E312A
c.935A>C
2 papers
NM_003054.6
p.E312D
c.936G>C
2 papers
NM_003054.6
p.E312D
c.936G>T
1 paper
NM_003054.6
p.P313A
c.937C>G
1 paper
NM_003054.6
p.P313L
c.938C>T
1 paper
NM_003054.6
p.A314V
c.941C>T
3 papers
NM_003054.6
p.A309V
c.926C>T
1 paper
NM_003054.6
p.A309T
c.925G>A
2 papers
NM_003054.6
p.I308V
c.922A>G
7 papers
NM_003054.6
p.P316A
c.946C>G
2 papers
NM_003054.6
p.W318R
c.952T>A
2 papers
NM_003054.6
p.W318R
c.952T>C
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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."