Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.W482R

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
12 papers
NM_004211.5
p.W482R
c.1444T>C
Surrounding Variants
12 papers
NM_004211.5
p.W482R
c.1444T>A
1 paper
NM_004211.5
p.A481_W482insFs
c.1443_1444insG
1 paper
NM_004211.5
p.W482L
c.1445G>T
1 paper
NM_004211.5
p.S489delFs
c.1466_1467delCT
4 papers
NM_004211.5
p.S477P
c.1429T>C
2 papers
NM_004211.5
p.S477delFs
c.1430delC
1 paper
NM_004211.5
p.S477fs
c.1429_1430fs
1 paper
NM_004211.5
p.F476L
c.1428C>A
1 paper
NM_004211.5
p.F476L
c.1428C>G
1 paper
NM_004211.5
p.F476Y
c.1427T>A
1 paper
NM_004211.5
p.F476L
c.1426T>C
1 paper
NM_004211.5
p.S489delFs
c.1466delC
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