Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.I426V

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.I426V
c.1276A>G
Surrounding Variants
2 papers
NM_003055.3
p.D425E
c.1275C>A
2 papers
NM_003055.3
p.D425E
c.1275C>G
4 papers
NM_003055.3
p.D425N
c.1273G>A
1 paper
NM_003055.3
p.D425H
c.1273G>C
1 paper
NM_003055.3
p.Y428F
c.1283A>T
3 papers
NM_003055.3
p.A431_Y432insFs
c.1293_1294insG
1 paper
NM_003055.3
p.Y432F
c.1295A>T
1 paper
NM_003055.3
p.R412S
c.1234C>A
1 paper
NM_003055.3
p.R412C
c.1234C>T
1 paper
NM_003055.3
p.D410N
c.1228G>A
1 paper
NM_003055.3
p.A406S
c.1216G>T
4 papers
NM_003055.3
p.D398E
c.1194C>A
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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."