Varaico: Literature-Extracted Genetic Variants

Gene:SV2C

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
1–12 of 116 variants
6 papers
NM_014979.4
p.D543N
c.1627G>A
5 papers
NM_014979.4
p.T482S
c.1444A>T
5 papers
NM_014979.4
p.T482S
c.1445C>G
2 papers
NM_014979.4
p.R48W
c.142C>T
2 papers
NM_014979.4
p.R120W
c.358C>T
2 papers
NM_014979.4
p.R121W
c.361C>T
2 papers
NM_014979.4
p.R149H
c.446G>A
2 papers
NM_014979.4
p.V172I
c.514G>A
2 papers
NM_014979.4
p.R371W
c.1111C>T
2 papers
NM_014979.4
p.R471K
c.1412G>A
2 papers
NM_014979.4
p.Y497H
c.1489T>C
2 papers
NM_014979.4
p.Y531C
c.1592A>G
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