Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A3

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
1–12 of 90 variants
6 papers
NM_032803.6
p.S589T
c.1766G>C
4 papers
NM_032803.6
p.A80T
c.238G>A
2 papers
NM_032803.6
p.R16G
c.46A>G
2 papers
NM_032803.6
p.S65T
c.193T>A
2 papers
NM_032803.6
p.V91G
c.272T>G
2 papers
NM_032803.6
p.T113S
c.337A>T
2 papers
NM_032803.6
p.T113S
c.338C>G
2 papers
NM_032803.6
p.A126T
c.376G>A
2 papers
NM_032803.6
p.S184G
c.550A>G
2 papers
NM_032803.6
p.R600C
c.1798C>T
1 paper
NM_032803.6
p.K12T
c.35A>C
1 paper
NM_032803.6
p.K12K
c.36G>A
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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."