Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.D27E

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.D27E
c.81T>A
Surrounding Variants
1 paper
NM_004211.5
p.C30*
c.90C>A
2 papers
NM_004211.5
p.A31A
c.93T>C
1 paper
NM_004211.5
p.A22G
c.65C>G
1 paper
NM_004211.5
p.A22V
c.65C>T
1 paper
NM_004211.5
p.A22insFs
c.65_66ins4
2 papers
NM_004211.5
p.A21E
c.62C>A
1 paper
NM_004211.5
p.A21G
c.62C>G
1 paper
NM_004211.5
p.A20delFs
c.60delG
1 paper
NM_004211.5
p.P36R
c.107C>G
1 paper
NM_004211.5
p.A42V
c.125C>T
1 paper
NM_004211.5
p.P46R
c.137C>G
1 paper
NM_004211.5
p.R50C
c.148C>T
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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."