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

3 papers

NM_001323032.3

p.G240C

c.718G>T

Surrounding Variants

1 paper

NM_001323032.3

p.G240D

c.719G>A

1 paper

NM_001323032.3

p.W243ins1

c.728_729insCCA

1 paper

NM_001323032.3

p.A254delFs

c.761delC

1 paper

NM_001323032.3

p.A200A

c.600C>G

1 paper

NM_001323032.3

p.V184I

c.550G>A

1 paper

NM_001323032.3

p.R174K

c.521G>A

1 paper

NM_001323032.3

p.G173*

c.517G>T