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.D547A

c.1640A>C

Surrounding Variants

3 papers

NM_001172501.3

p.Y548H

c.1642T>C

1 paper

NM_001172501.3

p.D546G

c.1637A>G

3 papers

NM_001172501.3

p.I549T

c.1646T>C

1 paper

NM_001172501.3

p.L543P

c.1628T>C

1 paper

NM_001172501.3

p.P552insFs

c.1656dupC

1 paper

NM_001172501.3

p.A554_V567del14

c.1660_1700del42

1 paper

NM_001172501.3

p.W556L

c.1667G>T

1 paper

NM_001172501.3

p.V534_F540delFs

c.1602_1618del17

1 paper

NM_001172501.3

p.F531Y

c.1592T>A

1 paper

NM_001172501.3

p.I571L

c.1711A>C

1 paper

NM_001172501.3

p.V573I

c.1717G>A

1 paper

NM_001172501.3

p.K576M

c.1727A>T