Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A7
Variant:p.V326L

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
Selected Variant
1 paper
NM_014228.5
p.V326L
c.976G>C
Surrounding Variants
2 papers
NM_014228.5
p.V326A
c.977T>C
1 paper
NM_014228.5
p.R321Splc
c.963-1G>A
1 paper
NM_014228.5
p.R321Splc
c.963-2A>G
2 papers
NM_014228.5
p.G338S
c.1012G>A
1 paper
NM_014228.5
p.L352P
c.1055T>C
1 paper
NM_014228.5
p.A360A
c.1080C>T
1 paper
NM_014228.5
p.Y320S
c.959A>C
1 paper
NM_014228.5
p.Y320C
c.959A>G
1 paper
NM_014228.5
p.F315_H316insC
c.943_947ins3
1 paper
NM_014228.5
p.T314M
c.941C>T
1 paper
NM_014228.5
p.F309_A310insC
c.925_929ins3
1 paper
NM_014228.5
p.G302S
c.904G>A
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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."