Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A7
Variant:p.C54R

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.C54R
c.160T>C
Surrounding Variants
1 paper
NM_014228.5
p.V55A
c.164T>C
2 papers
NM_014228.5
p.G56A
c.167G>C
2 papers
NM_014228.5
p.I51V
c.151A>G
1 paper
NM_014228.5
p.V60insFs
c.178_179insC
1 paper
NM_014228.5
p.F46L
c.138C>A
1 paper
NM_014228.5
p.F46L
c.138C>G
1 paper
NM_014228.5
p.R62C
c.184C>T
1 paper
NM_014228.5
p.F46L
c.136T>C
1 paper
NM_014228.5
p.R62P
c.185G>C
1 paper
NM_014228.5
p.F63C
c.188T>G
1 paper
NM_014228.5
p.R66Q
c.197G>A
1 paper
NM_014228.5
p.N39K
c.117C>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."