Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.V52F

SLC18A3

123 papers

RefSeq Summary

This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylchol...

Pfam Domains

MFS_1aa 39–424UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 18 member A3

HGNC Alias Symbol

VACHT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003055.3
p.V52F
c.154G>T
Surrounding Variants
1 paper
NM_003055.3
p.M51I
c.153G>C
1 paper
NM_003055.3
p.V52V
c.156C>T
1 paper
NM_003055.3
p.Y50F
c.149A>T
1 paper
NM_003055.3
p.D46E
c.138C>A
1 paper
NM_003055.3
p.D46E
c.138C>G
1 paper
NM_003055.3
p.D46G
c.137A>G
2 papers
NM_003055.3
p.D46N
c.136G>A
1 paper
NM_003055.3
p.L45L
c.135G>C
1 paper
NM_003055.3
p.L45M
c.133C>A
1 paper
NM_003055.3
p.D59N
c.175G>A
1 paper
NM_003055.3
p.Y60H
c.178T>C
1 paper
NM_003055.3
p.I61M
c.183C>G
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