Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A7

SLC6A7

203 papers

RefSeq Summary

This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs fro...

Pfam Domains

SNFaa 37–561UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 7

HGNC Alias Symbol

PROT

Papers
RefSeq ID
Protein change
DNA change
1–12 of 166 variants
2 papers
NM_014228.5
p.H8Y
c.22C>T
2 papers
NM_014228.5
p.V31A
c.92T>C
2 papers
NM_014228.5
p.I51V
c.151A>G
2 papers
NM_014228.5
p.C54R
c.160T>C
2 papers
NM_014228.5
p.G56A
c.167G>C
2 papers
NM_014228.5
p.G73G
c.219C>T
2 papers
NM_014228.5
p.V108L
c.322G>C
2 papers
NM_014228.5
p.V326A
c.977T>C
2 papers
NM_014228.5
p.G338S
c.1012G>A
2 papers
NM_014228.5
p.G396S
c.1186G>A
2 papers
NM_014228.5
p.G445R
c.1333G>A
2 papers
NM_014228.5
p.G445R
c.1333G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."