Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A4
Variant:p.G427E

SLC1A4

116 papers

RefSeq Summary

The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, ...

Pfam Domains

SDFaa 44–477UCSCSodium:dicarboxylate symporter family

Gene Aliases

HGNC Name

solute carrier family 1 member 4

HGNC Alias Symbols

SATT; ASCT1; ASCT-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003038.5
p.G427E
c.1280G>A
Surrounding Variants
1 paper
NM_003038.5
p.T430fs
c.1288_1289fs
1 paper
NM_003038.5
p.I431T
c.1292T>C
2 papers
NM_003038.5
p.G422D
c.1265G>A
1 paper
NM_003038.5
p.G422S
c.1264G>A
1 paper
NM_003038.5
p.L440L
c.1318C>T
1 paper
NM_003038.5
p.P441L
c.1322C>T
2 papers
NM_003038.5
p.T442N
c.1325C>A
2 papers
NM_003038.5
p.T412I
c.1235C>T
1 paper
NM_003038.5
p.L447V
c.1339C>G
1 paper
NM_003038.5
p.V451G
c.1352T>G
2 papers
NM_001193493.2
p.W155R
c.463T>A
NM_003038.5
p.W453R
c.1357T>A
2 papers
NM_001193493.2
p.W155R
c.463T>C
NM_003038.5
p.W453R
c.1357T>C
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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."