Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A7
Variant:p.G445R

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
2 papers
NM_014228.5
p.G445R
c.1333G>C
Surrounding Variants
2 papers
NM_014228.5
p.G445R
c.1333G>A
1 paper
NM_014228.5
p.G446A
c.1337G>C
1 paper
NM_014228.5
p.V451A
c.1352T>C
1 paper
NM_014228.5
p.L452R
c.1355T>G
1 paper
NM_014228.5
p.D454insFs
c.1361_1362insC
1 paper
NM_014228.5
p.S457S
c.1371C>T
1 paper
NM_014228.5
p.A458T
c.1372G>A
1 paper
NM_014228.5
p.V465V
c.1395G>A
1 paper
NM_014228.5
p.T469M
c.1406C>T
1 paper
NM_014228.5
p.A472T
c.1414G>A
1 paper
NM_014228.5
p.G478Splc
c.1432+1G>A
1 paper
NM_014228.5
p.D485E
c.1455C>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."