Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.G186A

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
6 papers
NM_003055.3
p.G186A
c.557G>C
Surrounding Variants
1 paper
NM_003055.3
p.Q185*
c.553C>T
1 paper
NM_003055.3
p.R182P
c.545G>C
1 paper
NM_003055.3
p.F191Y
c.572T>A
1 paper
NM_003055.3
p.A180G
c.539C>G
3 papers
NM_003055.3
p.D193N
c.577G>A
1 paper
NM_003055.3
p.D193A
c.578A>C
1 paper
NM_003055.3
p.D193E
c.579C>A
1 paper
NM_003055.3
p.D193E
c.579C>G
1 paper
NM_003055.3
p.I197L
c.589A>C
1 paper
NM_003055.3
p.I197L
c.589A>T
1 paper
NM_003055.3
p.Y175F
c.524A>T
2 papers
NM_003055.3
p.I200N
c.599T>A
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