Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.E96fs

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.E96fs
c.286_287fs
Surrounding Variants
1 paper
NM_014270.5
p.E96K
c.286G>A
1 paper
NM_014270.5
p.G95delFs
c.285delT
1 paper
NM_014270.5
p.E96V
c.287A>T
2 papers
NM_014270.5
p.Y97*
c.291T>G
2 papers
NM_014270.5
p.Y97*
c.291T>A
1 paper
NM_014270.5
p.P98T
c.292C>A
3 papers
NM_014270.5
p.Y99H
c.295T>C
1 paper
NM_014270.5
p.P98delFs
c.292_293delGG
1 paper
NM_014270.5
p.K92M
c.275A>T
1 paper
NM_014270.5
p.K92fs
c.274_275fs
1 paper
NM_014270.5
p.T91_K92insFs
c.273_274insA
1 paper
NM_014270.5
p.T91I
c.272C>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."