Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.D255A

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.D255A
c.764A>C
Surrounding Variants
1 paper
NM_003055.3
p.D255E
c.765C>A
1 paper
NM_003055.3
p.D255E
c.765C>G
2 papers
NM_003055.3
p.D255N
c.763G>A
1 paper
NM_003055.3
p.L257del1
c.769_770delCTG
1 paper
NM_003055.3
p.L257_L258del1
c.770_772delTGT
1 paper
NM_003055.3
p.S252L
c.755C>T
1 paper
NM_003055.3
p.S252A
c.754T>G
1 paper
NM_003055.3
p.A261P
c.781G>C
1 paper
NM_003055.3
p.A263insFs
c.788_789insC
1 paper
NM_003055.3
p.R242H
c.725G>A
1 paper
NM_003055.3
p.A269insFs
c.806_807insC
3 papers
NM_003055.3
p.G233A
c.698G>C
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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."