Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A4
Variant:p.Y191*

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
9 papers
NM_003038.5
p.Y191*
c.573T>A
Surrounding Variants
9 papers
NM_003038.5
p.Y191*
c.573T>G
1 paper
NM_003038.5
p.N201T
c.602A>C
1 paper
NM_003038.5
p.S204Y
c.611C>A
1 paper
NM_003038.5
p.N206T
c.617A>C
1 paper
NM_003038.5
p.R189C
c.565C>T
1 paper
NM_003038.5
p.S181F
c.542C>T
1 paper
NM_003038.5
p.R176Splc
c.528-18T>A
1 paper
NM_003038.5
p.N222T
c.665A>C
1 paper
NM_003038.5
p.L231V
c.691C>G
1 paper
NM_003038.5
p.A236delFs
c.706_707delGC
1 paper
NM_003038.5
p.E243K
c.727G>A
1 paper
NM_003038.5
p.F250S
c.749T>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."