Varaico: Literature-Extracted Genetic Variants

Gene:SV2C
Variant:p.E63Q

SV2C

70 papers

Pfam Domains

Sugar_traa 134–428UCSCSugar (and other) transporter
LD_SV2aa 471–562UCSCSV2A/B/C luminal domain
MFS_1aa 571–725UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

synaptic vesicle glycoprotein 2C

HGNC Alias Symbol

SLC22B3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014979.4
p.E63Q
c.187G>C
Surrounding Variants
1 paper
NM_014979.4
p.S76C
c.226A>T
2 papers
NM_014979.4
p.R48W
c.142C>T
1 paper
NM_014979.4
p.E80fs
c.238_239fs
1 paper
NM_014979.4
p.Y46N
c.136T>A
1 paper
NM_014979.4
p.D86Y
c.256G>T
1 paper
NM_014979.4
p.E92K
c.274G>A
1 paper
NM_014979.4
p.A102V
c.305C>T
1 paper
NM_014979.4
p.I106M
c.318C>G
1 paper
NM_014979.4
p.S10S
c.30A>G
2 papers
NM_014979.4
p.R120W
c.358C>T
1 paper
NM_014979.4
p.R120R
c.360G>A
2 papers
NM_014979.4
p.R121W
c.361C>T
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