Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.L12P

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.L12P
c.35T>C
Surrounding Variants
1 paper
NM_003054.6
p.L12Q
c.35T>A
1 paper
NM_003054.6
p.L12fs
c.34_35fs
1 paper
NM_003054.6
p.W11*
c.33G>A
1 paper
NM_003054.6
p.L12insFs
c.34dupC
1 paper
NM_003054.6
p.W11*
c.32G>A
1 paper
NM_003054.6
p.A7G
c.20C>G
1 paper
NM_003054.6
p.A7V
c.20C>T
1 paper
NM_003054.6
p.R17H
c.50G>A
1 paper
NM_003054.6
p.E5K
c.13G>A
1 paper
NM_003054.6
p.M1_A2insFs
c.3_4insT
1 paper
NM_003054.6
p.V26V
c.78G>T
1 paper
NM_003054.6
p.L28insFs
c.84dupG
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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."