Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.P139fs

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.P139fs
c.415_416fs
Surrounding Variants
1 paper
NM_014270.5
p.P139R
c.416C>G
3 papers
NM_014270.5
p.A138_P139delFs
c.414_415delGC
1 paper
NM_014270.5
p.A138V
c.413C>T
1 paper
NM_014270.5
p.P139fs
c.415_416fs
1 paper
NM_014270.5
p.C137_A138delFs
c.411_412delCA
1 paper
NM_014270.5
p.A138T
c.412G>A
1 paper
NM_014270.5
p.C137W
c.411T>G
8 papers
NM_014270.5
p.F140S
c.419T>C
4 papers
NM_014270.5
p.C137C
c.411T>C
4 papers
NM_014270.5
p.C137R
c.409T>C
2 papers
NM_014270.5
p.Y141C
c.422A>G
2 papers
NM_014270.5
p.Y141S
c.422A>C
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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."