Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A5
Variant:p.L121L

SLC1A5

187 papers

RefSeq Summary

The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011].

Pfam Domains

SDFaa 54–485UCSCSodium:dicarboxylate symporter family

Gene Aliases

HGNC Name

solute carrier family 1 member 5

HGNC Previous Symbols

RDRC; M7V1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145145.2
p.L121L
c.363C>A
Surrounding Variants
1 paper
NM_005628.3
p.L319_L321Fs
c.955_963delinsAFs
1 paper
NM_005628.3
p.L321R
c.962T>G
1 paper
NM_005628.3
p.L327P
c.980T>C
1 paper
NM_005628.3
p.G317G
c.951G>A
2 papers
NM_005628.3
p.R330C
c.988C>T
1 paper
NM_005628.3
p.R330H
c.989G>A
1 paper
NM_005628.3
p.Y334F
c.1001A>T
1 paper
NM_005628.3
p.C309S
c.926G>C
1 paper
NM_005628.3
p.C309S
c.925T>A
1 paper
NM_005628.3
p.G339_V341del3
c.1015_1022del9
1 paper
NM_005628.3
p.R301H
c.902G>A
1 paper
NM_005628.3
p.G296D
c.887G>A
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