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.L530_F531Splc

c.1590+15C>T

Surrounding Variants

9 papers

NM_001172501.3

p.F528C

c.1583T>G

1 paper

NM_001172501.3

p.V524I

c.1570G>A

1 paper

NM_001172501.3

p.R518K

c.1553G>A

1 paper

NM_001172501.3

p.P513L

c.1538C>T

1 paper

NM_001172501.3

p.D504N

c.1510G>A

1 paper

NM_001172501.3

p.F531Y

c.1592T>A

1 paper

NM_001172501.3

p.V534_F540delFs

c.1602_1618del17

1 paper

NM_001172501.3

p.L543P

c.1628T>C

1 paper

NM_001172501.3

p.D546G

c.1637A>G

1 paper

NM_001172501.3

p.D547A

c.1640A>C

3 papers

NM_001172501.3

p.Y548H

c.1642T>C

3 papers

NM_001172501.3

p.I549T

c.1646T>C