Varaico: Literature-Extracted Genetic Variants

SV2A

194 papers

RefSeq Summary

The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons....

Pfam Domains

Sugar_traa 162–485UCSCSugar (and other) transporter

LD_SV2aa 485–576UCSCSV2A/B/C luminal domain

MFS_1aa 585–740UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

synaptic vesicle glycoprotein 2A

HGNC Alias Symbols

SV2; KIAA0736; SLC22B1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 177 variants

9 papers

NM_014849.5

p.R383Q

c.1148G>A

6 papers

NM_014849.5

p.L174Q

c.521T>A

6 papers

NM_014849.5

p.R570C

c.1708C>T

4 papers

NM_014849.5

p.G660R

c.1978G>C

4 papers

NM_014849.5

p.G660R

c.1978G>A

4 papers

NM_014849.5

p.D670A

c.2009A>C

3 papers

NM_014849.5

p.E89K

c.265G>A

3 papers

NM_014849.5

p.R136W

c.406C>T

3 papers

NM_014849.5

p.D179A

c.536A>C

3 papers

NM_014849.5

p.E182A

c.545A>C

2 papers

NM_014849.5

p.M1I

c.3G>T

2 papers

NM_014849.5

p.M1I

c.3G>C