Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A4
Variant:p.L410Splc

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.L410Splc
c.1229+1G>C
Surrounding Variants
1 paper
NM_003038.5
p.A403V
c.1208C>T
1 paper
NM_003038.5
p.E400A
c.1199A>C
1 paper
NM_003038.5
p.V399I
c.1195G>A
1 paper
NM_003038.5
p.V399L
c.1195G>C
1 paper
NM_003038.5
p.N398S
c.1193A>G
1 paper
NM_003038.5
p.A394T
c.1180G>A
1 paper
NM_003038.5
p.I393T
c.1178T>C
1 paper
NM_003038.5
p.A389D
c.1166C>A
1 paper
NM_003038.5
p.A389V
c.1166C>T
1 paper
NM_003038.5
p.V388M
c.1162G>A
1 paper
NM_003038.5
p.C387Y
c.1160G>A
1 paper
NM_003038.5
p.Q386E
c.1156C>G
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