Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A4
Variant:p.S345R

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.S345R
c.1033A>C
Surrounding Variants
1 paper
NM_003038.5
p.S345R
c.1035C>A
1 paper
NM_003038.5
p.S345R
c.1035C>G
1 paper
NM_003038.5
p.A337T
c.1009G>A
1 paper
NM_003038.5
p.A334T
c.1000G>A
1 paper
NM_003038.5
p.G331R
c.991G>C
1 paper
NM_003038.5
p.R327*
c.979A>T
1 paper
NM_003038.5
p.N324fs
c.970_971fs
1 paper
NM_003038.5
p.N324delFs
c.971delA
4 papers
NM_003038.5
p.R322*
c.964C>T
4 papers
NM_003038.5
p.L315fs
c.943_944fs
1 paper
NM_003038.5
p.L315delFs
c.944_945delTT
8 papers
NM_003038.5
p.L315fs
c.943_944fs
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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."