Varaico: Literature-Extracted Genetic Variants

SLC6A2

476 papers

RefSeq Summary

This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve ter...

Pfam Domains

SNFaa 56–580UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 2

HGNC Previous Names

solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2; solute carrier family 6 (neurotransmitter transporter), member 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001172501.3

p.A384P

c.1150G>C

Surrounding Variants

1 paper

NM_001172501.3

p.I389M

c.1167C>G

1 paper

NM_001172501.3

p.E393A

c.1178A>C

1 paper

NM_001172501.3

p.I395insFs

c.1184_1185insA

1 paper

NM_001172501.3

p.S399delFs

c.1196delC

1 paper

NM_001172501.3

p.G400E

c.1199G>A

1 paper

NM_001172501.3

p.F408fs

c.1222_1223fs

1 paper

NM_001172501.3

p.L412L

c.1236C>T

2 papers

NM_001172501.3

p.D418N

c.1252G>A

1 paper

NM_001172501.3

p.D418Y

c.1252G>T

1 paper

NM_001172501.3

p.D418A

c.1253A>C

1 paper

NM_001172501.3

p.S419T

c.1256G>C

1 paper

NM_001172501.3

p.S420A

c.1258T>G