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

72 papers

NM_001172501.3

p.T429T

c.1287G>A

Surrounding Variants

1 paper

NM_001172501.3

p.T429K

c.1286C>A

2 papers

NM_001172501.3

p.L431V

c.1291C>G

2 papers

NM_001172501.3

p.Q436*

c.1306C>T

1 paper

NM_001172501.3

p.R440Q

c.1319G>A

2 papers

NM_001172501.3

p.L444P

c.1331T>C

1 paper

NM_001172501.3

p.F447delFs

c.1341delT

1 paper

NM_001172501.3

p.F447fs

c.1339_1340fs

1 paper

NM_001172501.3

p.F447S

c.1340T>C

7 papers

NM_001172501.3

p.V449I

c.1345G>A

1 paper

NM_001172501.3

p.V449F

c.1345G>T

1 paper

NM_001172501.3

p.L455F

c.1363C>T

28 papers

NM_001172501.3

p.A457P

c.1369G>C