Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A5
Variant:p.P527insFs

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.P527insFs
c.1579_1580insA
Surrounding Variants
1 paper
NM_005628.3
p.G526G
c.1578G>A
1 paper
NM_005628.3
p.A528_G529ins1
c.1584_1585insAAT
1 paper
NM_005628.3
p.A531_A534del4
c.1591_1601del12
1 paper
NM_005628.3
p.E536Q
c.1606G>C
1 paper
NM_005628.3
p.M541T
c.1622T>C
4 papers
NM_005628.3
p.V512L
c.1534G>C
1 paper
NM_005628.3
p.V501M
c.1501G>A
1 paper
NM_005628.3
p.E495K
c.1483G>A
1 paper
NM_005628.3
p.E490G
c.1469A>G
1 paper
NM_005628.3
p.Q483*
c.1447C>T
1 paper
NM_005628.3
p.L482F
c.1444C>T
1 paper
NM_005628.3
p.G480R
c.1438G>A
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