Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.F220Y

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
1 paper
NM_003055.3
p.F220Y
c.659T>A
Surrounding Variants
1 paper
NM_003055.3
p.F223Y
c.668T>A
1 paper
NM_003055.3
p.S225C
c.673A>T
1 paper
NM_003055.3
p.V227L
c.679G>C
1 paper
NM_003055.3
p.V227L
c.679G>T
1 paper
NM_003055.3
p.V227A
c.680T>C
1 paper
NM_003055.3
p.A228G
c.683C>G
1 paper
NM_003055.3
p.A228V
c.683C>T
1 paper
NM_003055.3
p.P230H
c.689C>A
3 papers
NM_003055.3
p.G233A
c.698G>C
1 paper
NM_003055.3
p.D202N
c.604G>A
2 papers
NM_003055.3
p.I200N
c.599T>A
1 paper
NM_003055.3
p.R242H
c.725G>A
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