Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A4
Variant:p.G374R

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
3 papers
NM_003038.5
p.G374R
c.1120G>C
Surrounding Variants
3 papers
NM_003038.5
p.G374R
c.1120G>A
1 paper
NM_003038.5
p.P372L
c.1115C>T
2 papers
NM_003038.5
p.D380N
c.1138G>A
1 paper
NM_003038.5
p.D380A
c.1139A>C
1 paper
NM_003038.5
p.D380G
c.1139A>G
8 papers
NM_003038.5
p.G381R
c.1141G>A
8 papers
NM_003038.5
p.G381R
c.1141G>C
1 paper
NM_003038.5
p.A382T
c.1144G>A
1 paper
NM_003038.5
p.Q386E
c.1156C>G
1 paper
NM_003038.5
p.C387Y
c.1160G>A
1 paper
NM_003038.5
p.V388M
c.1162G>A
1 paper
NM_003038.5
p.A389D
c.1166C>A
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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."