Varaico: Literature-Extracted Genetic Variants

Gene:SV2C
Variant:p.I185N

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.I185N
c.554T>A
Surrounding Variants
1 paper
NM_014979.4
p.S188A
c.562T>G
1 paper
NM_014979.4
p.S178T
c.533G>C
1 paper
NM_014979.4
p.V175V
c.525G>C
1 paper
NM_014979.4
p.V175M
c.523G>A
2 papers
NM_014979.4
p.V172I
c.514G>A
1 paper
NM_014979.4
p.M163L
c.487A>C
1 paper
NM_014979.4
p.M163L
c.487A>T
1 paper
NM_014979.4
p.L162F
c.484C>T
2 papers
NM_014979.4
p.R149H
c.446G>A
1 paper
NM_014979.4
p.C145*
c.435C>A
2 papers
NM_014979.4
p.R121W
c.361C>T
1 paper
NM_014979.4
p.R120R
c.360G>A
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