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.I571L

c.1711A>C

Surrounding Variants

1 paper

NM_001172501.3

p.V573I

c.1717G>A

1 paper

NM_001172501.3

p.K576M

c.1727A>T

1 paper

NM_001172501.3

p.T580A

c.1738A>G

1 paper

NM_001172501.3

p.S583A

c.1747T>G

1 paper

NM_001172501.3

p.L584F

c.1750C>T

1 paper

NM_001172501.3

p.W556L

c.1667G>T

1 paper

NM_001172501.3

p.A554_V567del14

c.1660_1700del42

1 paper

NM_001172501.3

p.P552insFs

c.1656dupC

3 papers

NM_001172501.3

p.I549T

c.1646T>C

3 papers

NM_001172501.3

p.Y548H

c.1642T>C

1 paper

NM_001172501.3

p.D547A

c.1640A>C

1 paper

NM_001172501.3

p.D546G

c.1637A>G