Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A7
Variant:p.A291T

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.A291T
c.871G>A
Surrounding Variants
1 paper
NM_014228.5
p.A291del1
c.871_872delGCT
1 paper
NM_014228.5
p.V287L
c.859G>C
1 paper
NM_014228.5
p.V287L
c.859G>T
1 paper
NM_014228.5
p.F296F
c.888C>T
1 paper
NM_014228.5
p.S298_G302del5
c.892_905del15
1 paper
NM_014228.5
p.V301M
c.901G>A
1 paper
NM_014228.5
p.G302S
c.904G>A
1 paper
NM_014228.5
p.F309_A310insC
c.925_929ins3
1 paper
NM_014228.5
p.T314M
c.941C>T
1 paper
NM_014228.5
p.F315_H316insC
c.943_947ins3
1 paper
NM_014228.5
p.Y320S
c.959A>C
1 paper
NM_014228.5
p.Y320C
c.959A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."