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

1–12 of 55 variants

3 papers

NM_001323032.3

p.L80L

c.240G>C

3 papers

NM_001323032.3

p.G240C

c.718G>T

3 papers

NM_001323032.3

p.I510V

c.1528A>G

2 papers

NM_001323032.3

p.A638T

c.1912G>A

1 paper

NM_001323032.3

p.S16I

c.47G>T

1 paper

NM_001323032.3

p.R21C

c.61C>T

1 paper

NM_001323032.3

p.G22S

c.64G>A

1 paper

NM_001323032.3

p.E28D

c.84A>C

1 paper

NM_001323032.3

p.E28D

c.84A>T

1 paper

NM_001323032.3

p.D34N

c.100G>A

1 paper

NM_001323032.3

p.Y46S

c.137A>C

1 paper

NM_001323032.3

p.I53M

c.159C>G