Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.A189V

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
3 papers
NM_014270.5
p.A189V
c.566C>T
Surrounding Variants
2 papers
NM_014270.5
p.V188L
c.562G>T
2 papers
NM_014270.5
p.V188L
c.562G>C
9 papers
NM_014270.5
p.V188M
c.562G>A
3 papers
NM_014270.5
p.I187F
c.559A>T
1 paper
NM_014270.5
p.L185_I187Fs
c.554_559delinsTGTGFs
1 paper
NM_014270.5
p.I192V
c.574A>G
1 paper
NM_014270.5
p.I192S
c.575T>G
1 paper
NM_014270.5
p.I193S
c.578T>G
1 paper
NM_014270.5
p.K184delFs
c.550delT
1 paper
NM_014270.5
p.S194R
c.580A>C
1 paper
NM_014270.5
p.I193_S194del1
c.578_580delTGA
1 paper
NM_014270.5
p.S194R
c.582C>G
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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."