Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A2
Variant:p.E113V

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.E113V
c.338A>T
Surrounding Variants
2 papers
NM_001172501.3
p.E113D
c.339G>C
2 papers
NM_001172501.3
p.E113D
c.339G>T
1 paper
NM_001172501.3
p.P108L
c.323C>T
1 paper
NM_001172501.3
p.G106E
c.317G>A
1 paper
NM_001172501.3
p.G106W
c.316G>T
6 papers
NM_001172501.3
p.R121Q
c.362G>A
1 paper
NM_001172501.3
p.E122A
c.365A>C
1 paper
NM_001172501.3
p.I104_A105insFs
c.312_313ins4
1 paper
NM_001172501.3
p.F101L
c.301T>C
15 papers
NM_001172501.3
p.T99I
c.296C>T
1 paper
NM_001172501.3
p.Y98H
c.292T>C
1 paper
NM_001172501.3
p.K129T
c.386A>C
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