Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A3
Variant:p.T113S

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
2 papers
NM_032803.6
p.T113S
c.338C>G
Surrounding Variants
2 papers
NM_032803.6
p.T113S
c.337A>T
1 paper
NM_032803.6
p.L117L
c.351C>T
1 paper
NM_032803.6
p.Y121F
c.362A>T
1 paper
NM_032803.6
p.T104A
c.310A>G
1 paper
NM_032803.6
p.P92L
c.275C>T
2 papers
NM_032803.6
p.V91G
c.272T>G
1 paper
NM_032803.6
p.F87L
c.261T>G
1 paper
NM_032803.6
p.F87L
c.261T>A
1 paper
NM_032803.6
p.F87S
c.260T>C
1 paper
NM_032803.6
p.F87Y
c.260T>A
1 paper
NM_032803.6
p.F87V
c.259T>G
1 paper
NM_032803.6
p.F87L
c.259T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."