Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.V41Splc

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.V41Splc
c.122-2A>T
Surrounding Variants
1 paper
NM_003054.6
p.V41Splc
c.122-1G>T
1 paper
NM_003054.6
p.V41A
c.122T>C
2 papers
NM_003054.6
p.P42L
c.125C>T
4 papers
NM_003054.6
p.I43F
c.127A>T
1 paper
NM_003054.6
p.P45A
c.133C>G
2 papers
NM_003054.6
p.S46R
c.136A>C
1 paper
NM_003054.6
p.S46C
c.136A>T
1 paper
NM_003054.6
p.S46R
c.138T>A
1 paper
NM_003054.6
p.S46R
c.138T>G
1 paper
NM_003054.6
p.S50T
c.149G>C
1 paper
NM_003054.6
p.K52R
c.155A>G
3 papers
NM_003054.6
p.Q61*
c.181C>T
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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."