Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.Y232delFs

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.Y232delFs
c.694delA
Surrounding Variants
8 papers
NM_014270.5
p.Y232C
c.695A>G
1 paper
NM_014270.5
p.Y232D
c.694T>G
2 papers
NM_014270.5
p.A231V
c.692C>T
1 paper
NM_014270.5
p.D233G
c.698A>G
4 papers
NM_014270.5
p.D233E
c.699T>G
4 papers
NM_014270.5
p.D233E
c.699T>A
2 papers
NM_014270.5
p.A231T
c.691G>A
1 paper
NM_014270.5
p.W230*
c.690G>A
1 paper
NM_014270.5
p.W230*
c.689G>A
2 papers
NM_014270.5
p.W230R
c.688T>C
2 papers
NM_014270.5
p.W230R
c.688T>A
3 papers
NM_014270.5
p.L229L
c.687C>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."