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.V468I

c.1402G>A

Surrounding Variants

1 paper

NM_001172501.3

p.Y467*

c.1401C>A

1 paper

NM_001172501.3

p.Y467*

c.1401C>G

2 papers

NM_001172501.3

p.Y467F

c.1400A>T

1 paper

NM_001172501.3

p.Y467H

c.1399T>C

1 paper

NM_001172501.3

p.L469F

c.1407G>C

1 paper

NM_001172501.3

p.L469F

c.1407G>T

3 papers

NM_001172501.3

p.D473A

c.1418A>C

1 paper

NM_001172501.3

p.A477V

c.1430C>T

1 paper

NM_001172501.3

p.K463_G464Splc

c.1390-18C>T

12 papers

NM_001172501.3

p.G478S

c.1432G>A

1 paper

NM_001172501.3

p.G491R

c.1471G>C

1 paper

NM_001172501.3

p.G491_F495delFs

c.1473_1483del11