Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A7
Variant:p.V108L

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.V108L
c.322G>C
Surrounding Variants
1 paper
NM_014228.5
p.A107P
c.319G>C
1 paper
NM_014228.5
p.P105_L106insFs
c.315_316insC
1 paper
NM_014228.5
p.I111T
c.332T>C
1 paper
NM_014228.5
p.L103_G104insFs
c.309_310insC
1 paper
NM_014228.5
p.L114P
c.341T>C
1 paper
NM_014228.5
p.F115delFs
c.344delT
1 paper
NM_014228.5
p.F100_S101delFs
c.298_302del5
1 paper
NM_014228.5
p.Q99L
c.296A>T
1 paper
NM_014228.5
p.G117Splc
c.349+2T>C
1 paper
NM_014228.5
p.L95L
c.285C>A
1 paper
NM_014228.5
p.L93Q
c.278T>A
1 paper
NM_014228.5
p.L93R
c.278T>G
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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."