Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.A65V

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.A65V
c.194C>T
Surrounding Variants
1 paper
NM_004211.5
p.A65_D66ins4
c.193_197ins12
1 paper
NM_004211.5
p.D66D
c.198C>T
1 paper
NM_004211.5
p.G76_V77insFs
c.228_229insA
1 paper
NM_004211.5
p.P52S
c.154C>T
1 paper
NM_004211.5
p.R50C
c.148C>T
1 paper
NM_004211.5
p.P46R
c.137C>G
1 paper
NM_004211.5
p.A42V
c.125C>T
8 papers
NM_004211.5
p.A89E
c.266C>A
1 paper
NM_004211.5
p.A92A
c.276A>G
1 paper
NM_004211.5
p.P36R
c.107C>G
1 paper
NM_004211.5
p.D96N
c.286G>A
1 paper
NM_004211.5
p.D96Fs
c.287delinsCAFs
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