Varaico: Literature-Extracted Genetic Variants

SV2B

62 papers

RefSeq Summary

This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicle...

Pfam Domains

Sugar_traa 107–417UCSCSugar (and other) transporter

LD_SV2aa 428–519UCSCSV2A/B/C luminal domain

MFS_1aa 527–681UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

synaptic vesicle glycoprotein 2B

HGNC Alias Symbols

KIAA0735; HsT19680; SLC22B2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001323032.3

p.A557S

c.1669G>T

Surrounding Variants

1 paper

NM_001323032.3

p.N516I

c.1547A>T

3 papers

NM_001323032.3

p.I510V

c.1528A>G

1 paper

NM_001323032.3

p.I575S

c.1724T>G

1 paper

NM_001323032.3

p.L583fs

c.1747_1748fs

1 paper

NM_001323032.3

p.F584insFs

c.1750dupT

1 paper

NM_001323032.3

p.C600G

c.1798T>G

1 paper

NM_001323032.3

p.S603T

c.1808G>C

1 paper

NM_001323032.3

p.D611N

c.1831G>A

1 paper

NM_001323032.3

p.D611A

c.1832A>C

1 paper

NM_001323032.3

p.G632E

c.1895G>A

1 paper

NM_001323032.3

p.K635R

c.1904A>G

2 papers

NM_001323032.3

p.A638T

c.1912G>A