Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.G360R

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
5 papers
NM_003055.3
p.G360R
c.1078G>C
Surrounding Variants
2 papers
NM_003055.3
p.G360S
c.1078G>A
1 paper
NM_003055.3
p.A361T
c.1081G>A
1 paper
NM_003055.3
p.A361delFs
c.1082delC
3 papers
NM_003055.3
p.I367_G368insFs
c.1101_1102insT
1 paper
NM_003055.3
p.A369P
c.1105G>C
1 paper
NM_003055.3
p.A350V
c.1049C>T
4 papers
NM_003055.3
p.C372*
c.1116C>A
1 paper
NM_003055.3
p.V346M
c.1036G>A
3 papers
NM_003055.3
p.L344insFs
c.1030_1031insC
1 paper
NM_003055.3
p.Y343F
c.1028A>T
3 papers
NM_003055.3
p.L344delFs
c.1030delC
1 paper
NM_003055.3
p.A381V
c.1142C>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."