Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.V519I

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.V519I
c.1555G>A
Surrounding Variants
1 paper
NM_004211.5
p.F515S
c.1544T>C
1 paper
NM_004211.5
p.V523I
c.1567G>A
3 papers
NM_004211.5
p.S513I
c.1538G>T
13 papers
NM_004211.5
p.S510R
c.1530T>A
13 papers
NM_004211.5
p.S510R
c.1530T>G
13 papers
NM_004211.5
p.S510R
c.1528A>C
12 papers
NM_004211.5
p.N509S
c.1526A>G
1 paper
NM_004211.5
p.I535S
c.1604T>G
1 paper
NM_004211.5
p.E536*
c.1606G>T
1 paper
NM_004211.5
p.Y499F
c.1496A>T
8 papers
NM_004211.5
p.Y491C
c.1472A>G
2 papers
NM_004211.5
p.S489F
c.1466C>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."