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.T258I

c.773C>T

Surrounding Variants

3 papers

NM_001172501.3

p.T258A

c.772A>G

3 papers

NM_001172501.3

p.S259A

c.775T>G

1 paper

NM_001172501.3

p.S259delFs

c.776delC

1 paper

NM_001172501.3

p.K261_V262Splc

c.783+2T>C

1 paper

NM_001172501.3

p.K261_V262Splc

c.783+2T>G

1 paper

NM_001172501.3

p.V245V

c.735C>T

11 papers

NM_001172501.3

p.V245I

c.733G>A

NM_001172502.1

p.V140I

c.418G>A

3 papers

NM_001172501.3

p.V244I

c.730G>A

1 paper

NM_001172501.3

p.V243L

c.727G>C

1 paper

NM_001172501.3

p.W235R

c.703T>A

1 paper

NM_001172501.3

p.W235R

c.703T>C

1 paper

NM_001172501.3

p.Q234R

c.701A>G