Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.Y81*

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.Y81*
c.243T>G
Surrounding Variants
1 paper
NM_003054.6
p.Y81*
c.243T>A
1 paper
NM_003054.6
p.S80_Y82delFs
c.240_244del5
1 paper
NM_003054.6
p.S85S
c.255G>T
1 paper
NM_003054.6
p.T89I
c.266C>T
1 paper
NM_003054.6
p.D73fs
c.217_218fs
2 papers
NM_003054.6
p.S72insFs
c.216dupA
1 paper
NM_003054.6
p.N91S
c.272A>G
1 paper
NM_003054.6
p.S70S
c.210C>T
1 paper
NM_003054.6
p.A69A
c.207C>G
2 papers
NM_003054.6
p.R94delFs
c.282delA
1 paper
NM_003054.6
p.T68I
c.203C>T
1 paper
NM_003054.6
p.D95fs
c.283_284fs
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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."