Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A4
Variant:p.G466E

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.G466E
c.1397G>A
Surrounding Variants
1 paper
NM_003038.5
p.D467N
c.1399G>A
1 paper
NM_003038.5
p.D467A
c.1400A>C
1 paper
NM_003038.5
p.T460M
c.1379C>T
1 paper
NM_003038.5
p.T458S
c.1373C>G
1 paper
NM_003038.5
p.L474P
c.1421T>C
1 paper
NM_003038.5
p.T458S
c.1372A>T
4 papers
NM_003038.5
p.R457Q
c.1370G>A
15 papers
NM_003038.5
p.R457W
c.1369C>T
1 paper
NM_003038.5
p.D456G
c.1367A>G
1 paper
NM_003038.5
p.H476_L477ins6
c.1428_1429ins18
1 paper
NM_003038.5
p.K480delFs
c.1439delA
1 paper
NM_003038.5
p.T482R
c.1445C>G
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