Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.A92insFs

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.A92insFs
c.275_276insC
Surrounding Variants
1 paper
NM_003055.3
p.A92T
c.274G>A
1 paper
NM_003055.3
p.S98T
c.292T>A
1 paper
NM_003055.3
p.T81I
c.242C>T
2 papers
NM_003055.3
p.T81P
c.241A>C
1 paper
NM_003055.3
p.W105*
c.314G>A
3 papers
NM_003055.3
p.W78*
c.233G>A
1 paper
NM_003055.3
p.W105*
c.315G>A
1 paper
NM_003055.3
p.G108C
c.322G>T
1 paper
NM_003055.3
p.G108G
c.324C>A
1 paper
NM_003055.3
p.R112Q
c.335G>A
1 paper
NM_003055.3
p.P71H
c.212C>A
1 paper
NM_003055.3
p.R65S
c.193C>A
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