Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.D426E

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.D426E
c.1278T>G
Surrounding Variants
1 paper
NM_003054.6
p.D426E
c.1278T>A
1 paper
NM_003054.6
p.D426A
c.1277A>C
2 papers
NM_003054.6
p.D426N
c.1276G>A
1 paper
NM_003054.6
p.C430F
c.1289G>T
1 paper
NM_003054.6
p.Y422C
c.1265A>G
1 paper
NM_003054.6
p.V421M
c.1261G>A
1 paper
NM_003054.6
p.Y433insFs
c.1297dupT
3 papers
NM_003054.6
p.Y433F
c.1298A>T
1 paper
NM_003054.6
p.Y418Y
c.1254T>C
3 papers
NM_003054.6
p.Y418S
c.1253A>C
2 papers
NM_003054.6
p.Y418C
c.1253A>G
2 papers
NM_003054.6
p.G436S
c.1306G>A
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