Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.S194R

SLC7A9

309 papers

RefSeq Summary

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutra...

Pfam Domains

AA_permease_2aa 30–450UCSCAmino acid permease

Gene Aliases

HGNC Name

solute carrier family 7 member 9

HGNC Previous Symbol

CSNU3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014270.5
p.S194R
c.582C>A
Surrounding Variants
1 paper
NM_014270.5
p.S194R
c.582C>G
10 papers
NM_014270.5
p.G195R
c.583G>C
11 papers
NM_014270.5
p.G195R
c.583G>A
1 paper
NM_014270.5
p.I193_S194del1
c.578_580delTGA
2 papers
NM_014270.5
p.G195E
c.584G>A
1 paper
NM_014270.5
p.S194R
c.580A>C
1 paper
NM_014270.5
p.I193S
c.578T>G
1 paper
NM_014270.5
p.L196L
c.586C>T
1 paper
NM_014270.5
p.I192S
c.575T>G
1 paper
NM_014270.5
p.I192V
c.574A>G
1 paper
NM_014270.5
p.L198insFs
c.594dupC
1 paper
NM_014270.5
p.L199P
c.596T>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."