Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A5
Variant:p.D475E

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_005628.3
p.D475E
c.1425C>G
Surrounding Variants
1 paper
NM_005628.3
p.D475E
c.1425C>A
1 paper
NM_005628.3
p.D475V
c.1424A>T
1 paper
NM_005628.3
p.G480R
c.1438G>A
1 paper
NM_005628.3
p.L482F
c.1444C>T
1 paper
NM_005628.3
p.Q483*
c.1447C>T
2 papers
NM_005628.3
p.C467R
c.1399T>C
1 paper
NM_005628.3
p.E490G
c.1469A>G
1 paper
NM_005628.3
p.E495K
c.1483G>A
1 paper
NM_005628.3
p.V501M
c.1501G>A
4 papers
NM_005628.3
p.V512L
c.1534G>C
1 paper
NM_005628.3
p.G526G
c.1578G>A
1 paper
NM_005628.3
p.P527insFs
c.1579_1580insA
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