Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A4
Variant:p.S263A

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.S263A
c.787T>G
Surrounding Variants
24 papers
NM_003038.5
p.E256K
c.766G>A
1 paper
NM_003038.5
p.N252S
c.755A>G
1 paper
NM_003038.5
p.F250S
c.749T>C
1 paper
NM_003038.5
p.E243K
c.727G>A
1 paper
NM_003038.5
p.A236delFs
c.706_707delGC
1 paper
NM_003038.5
p.L231V
c.691C>G
1 paper
NM_003038.5
p.N222T
c.665A>C
1 paper
NM_003038.5
p.V271V
c.813G>A
1 paper
NM_003038.5
p.E283_D286delFs
c.847_857del11
1 paper
NM_003038.5
p.G304D
c.911G>A
2 papers
NM_003038.5
p.H305R
c.914A>G
4 papers
NM_003038.5
p.L315fs
c.943_944fs
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