Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.W114R

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.W114R
c.340T>A
Surrounding Variants
3 papers
NM_014270.5
p.W114R
c.340T>C
1 paper
NM_014270.5
p.S113C
c.338C>G
6 papers
NM_014270.5
p.S116S
c.348C>T
1 paper
NM_014270.5
p.Y110C
c.329A>G
1 paper
NM_014270.5
p.A109D
c.326C>A
1 paper
NM_014270.5
p.A109S
c.325G>T
5 papers
NM_014270.5
p.A109T
c.325G>A
1 paper
NM_014270.5
p.V119I
c.355G>A
1 paper
NM_014270.5
p.I120L
c.358A>C
1 paper
NM_014270.5
p.I107V
c.319A>G
29 papers
NM_014270.5
p.P122S
c.364C>T
1 paper
NM_014270.5
p.P122L
c.365C>T
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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."