Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.P108fs

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.P108fs
c.322_323fs
Surrounding Variants
5 papers
NM_004211.5
p.P108L
c.323C>T
1 paper
NM_004211.5
p.P109S
c.325C>T
1 paper
NM_004211.5
p.P109L
c.326C>T
1 paper
NM_004211.5
p.P107delFs
c.319delC
1 paper
NM_004211.5
p.S112S
c.336C>T
1 paper
NM_004211.5
p.A103T
c.307G>A
1 paper
NM_004211.5
p.G102G
c.306C>A
1 paper
NM_004211.5
p.G102D
c.305G>A
3 papers
NM_004211.5
p.G102S
c.304G>A
1 paper
NM_004211.5
p.A100_Q101delFs
c.298_302del5
1 paper
NM_004211.5
p.E99fs
c.295_296fs
1 paper
NM_004211.5
p.L118L
c.352C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."