Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.V431_V432insFs

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.V431_V432insFs
c.1293_1294insT
Surrounding Variants
1 paper
NM_004211.5
p.V432I
c.1294G>A
1 paper
NM_004211.5
p.V432L
c.1294G>T
1 paper
NM_004211.5
p.V432fs
c.1294_1295fs
1 paper
NM_004211.5
p.V431fs
c.1291_1292fs
1 paper
NM_004211.5
p.V432A
c.1295T>C
1 paper
NM_004211.5
p.Y430*
c.1290T>A
1 paper
NM_004211.5
p.Y430*
c.1290T>G
3 papers
NM_004211.5
p.P429L
c.1286C>T
1 paper
NM_004211.5
p.P429A
c.1285C>G
9 papers
NM_004211.5
p.T425M
c.1274C>T
7 papers
NM_004211.5
p.R439*
c.1315C>T
1 paper
NM_004211.5
p.R439L
c.1316G>T
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