Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A3
Variant:p.Y430C

SLC7A3

115 papers

RefSeq Summary

This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded ...

Pfam Domains

AA_permease_2aa 32–465UCSCAmino acid permease
AA_permease_Caa 539–589UCSCC-terminus of AA_permease

Gene Aliases

HGNC Name

solute carrier family 7 member 3

HGNC Alias Symbols

CAT-3; ATRC3; FLJ14541

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032803.6
p.Y430C
c.1289A>G
Surrounding Variants
1 paper
NM_032803.6
p.E435Q
c.1303G>C
1 paper
NM_032803.6
p.A448A
c.1344A>C
1 paper
NM_032803.6
p.L472L
c.1416C>T
1 paper
NM_032803.6
p.L420Q
c.1259T>A
1 paper
NM_032803.6
p.A417T
c.1249G>A
1 paper
NM_032803.6
p.I412T
c.1235T>C
1 paper
NM_032803.6
p.M410R
c.1229T>G
1 paper
NM_032803.6
p.F401F
c.1203C>T
1 paper
NM_032803.6
p.L400P
c.1199T>C
1 paper
NM_032803.6
p.F399S
c.1196T>C
1 paper
NM_032803.6
p.R381H
c.1142G>A
1 paper
NM_032803.6
p.T378S
c.1133C>G
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