Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.C311S

SLC6A5

192 papers

RefSeq Summary

This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-me...

Pfam Domains

SNFaa 191–740UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 5

HGNC Alias Symbols

GLYT2; GlyT-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004211.5
p.C311S
c.931T>A
Surrounding Variants
1 paper
NM_004211.5
p.C311S
c.932G>C
1 paper
NM_004211.5
p.N313Y
c.937A>T
1 paper
NM_004211.5
p.P314delFs
c.941delC
1 paper
NM_004211.5
p.W308R
c.922T>A
1 paper
NM_004211.5
p.W308R
c.922T>C
1 paper
NM_004211.5
p.P307T
c.919C>A
1 paper
NM_004211.5
p.W315C
c.945G>T
8 papers
NM_004211.5
p.L306V
c.916C>G
1 paper
NM_004211.5
p.C320S
c.958T>A
1 paper
NM_004211.5
p.C320Y
c.959G>A
1 paper
NM_004211.5
p.C320S
c.959G>C
4 papers
NM_004211.5
p.Y297*
c.891C>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."