Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.C198C

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.C198C
c.594C>T
Surrounding Variants
1 paper
NM_003054.6
p.C198Y
c.593G>A
1 paper
NM_003054.6
p.G195V
c.584G>T
1 paper
NM_003054.6
p.A202delFs
c.605delC
1 paper
NM_003054.6
p.A202fs
c.604_605fs
1 paper
NM_003054.6
p.G195S
c.583G>A
1 paper
NM_003054.6
p.G203R
c.607G>A
1 paper
NM_003054.6
p.G203R
c.607G>C
3 papers
NM_003054.6
p.R189K
c.566G>A
1 paper
NM_003054.6
p.A188V
c.563C>T
1 paper
NM_003054.6
p.A183G
c.548C>G
1 paper
NM_003054.6
p.F178F
c.534C>T
1 paper
NM_003054.6
p.A208G
c.623C>G
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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."