Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.T123delFs

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.T123delFs
c.368_369delCG
Surrounding Variants
24 papers
NM_014270.5
p.T123M
c.368C>T
1 paper
NM_014270.5
p.T123P
c.367A>C
1 paper
NM_014270.5
p.P122L
c.365C>T
7 papers
NM_014270.5
p.A126T
c.376G>A
29 papers
NM_014270.5
p.P122S
c.364C>T
1 paper
NM_014270.5
p.I127T
c.380T>C
4 papers
NM_014270.5
p.I128F
c.382A>T
1 paper
NM_014270.5
p.I120L
c.358A>C
1 paper
NM_014270.5
p.V119I
c.355G>A
6 papers
NM_014270.5
p.S116S
c.348C>T
1 paper
NM_014270.5
p.S133P
c.397T>C
3 papers
NM_014270.5
p.S133S
c.399C>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."