Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.P237H

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
17 papers
NM_003054.6
p.P237H
c.710C>A
Surrounding Variants
1 paper
NM_003054.6
p.P237R
c.710C>G
2 papers
NM_003054.6
p.P237L
c.710C>T
1 paper
NM_003054.6
p.P237A
c.709C>G
1 paper
NM_003054.6
p.P236H
c.707C>A
1 paper
NM_003054.6
p.G239R
c.715G>A
1 paper
NM_003054.6
p.G239R
c.715G>C
1 paper
NM_003054.6
p.G235delFs
c.705delC
1 paper
NM_003054.6
p.S240_E244del5
c.718_731del15
1 paper
NM_003054.6
p.G235fs
c.703_704fs
1 paper
NM_003054.6
p.G235C
c.703G>T
1 paper
NM_003054.6
p.V234Splc
c.701-1G>A
1 paper
NM_003054.6
p.V234Splc
c.701-6C>A
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