Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A3
Variant:p.S65T

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.S65T
c.193T>A
Surrounding Variants
1 paper
NM_032803.6
p.F70S
c.209T>C
1 paper
NM_032803.6
p.F70L
c.210T>A
1 paper
NM_032803.6
p.A58A
c.174C>G
1 paper
NM_032803.6
p.A58D
c.173C>A
1 paper
NM_032803.6
p.V52D
c.155T>A
1 paper
NM_032803.6
p.V50V
c.150G>A
4 papers
NM_032803.6
p.A80T
c.238G>A
1 paper
NM_032803.6
p.L82M
c.244C>A
1 paper
NM_032803.6
p.E86Q
c.256G>C
1 paper
NM_032803.6
p.F87V
c.259T>G
1 paper
NM_032803.6
p.F87L
c.259T>C
1 paper
NM_032803.6
p.F87S
c.260T>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."