Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A1
Variant:p.R20W

SLC18A1

127 papers

RefSeq Summary

The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the c...

Pfam Domains

MFS_1aa 98–433UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 18 member A1

HGNC Previous Symbol

VMAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003053.4
p.R20W
c.58C>T
Surrounding Variants
1 paper
NM_003053.4
p.R20Q
c.59G>A
1 paper
NM_003053.4
p.L24fs
c.70_71fs
1 paper
NM_003053.4
p.V26_V27insFs
c.78_79insC
1 paper
NM_003053.4
p.L24_V27delFs
c.71_80del10
2 papers
NM_003053.4
p.R11W
c.31C>T
1 paper
NM_003053.4
p.Q10R
c.29A>G
1 paper
NM_003053.4
p.A8insFs
c.23dupC
1 paper
NM_003053.4
p.L31L
c.93G>A
1 paper
NM_003053.4
p.A8ins1
c.22_23insATC
1 paper
NM_003053.4
p.D34H
c.100G>C
2 papers
NM_003053.4
p.D34N
c.100G>A
1 paper
NM_003053.4
p.D34E
c.102C>G
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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."