Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A7
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
1 paper
NM_014228.5
p.M1T
c.2T>C
1 paper
NM_014228.5
p.M1I
c.3G>A
1 paper
NM_014228.5
p.M1_K2insFs
c.3_4insT
1 paper
NM_014228.5
p.K2delFs
c.4delA
1 paper
NM_014228.5
p.K3R
c.8A>G
1 paper
NM_014228.5
p.Q5E
c.13C>G
1 paper
NM_014228.5
p.H8N
c.22C>A
2 papers
NM_014228.5
p.H8Y
c.22C>T
1 paper
NM_014228.5
p.V13D
c.38T>A
1 paper
NM_014228.5
p.T14I
c.41C>T
1 paper
NM_014228.5
p.D16Y
c.46G>T
1 paper
NM_014228.5
p.L17M
c.49C>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."