Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.V142A

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
13 papers
NM_014270.5
p.V142A
c.425T>C
Surrounding Variants
1 paper
NM_014270.5
p.V142M
c.424G>A
2 papers
NM_014270.5
p.Y141C
c.422A>G
2 papers
NM_014270.5
p.Y141S
c.422A>C
1 paper
NM_014270.5
p.C144S
c.430T>A
8 papers
NM_014270.5
p.F140S
c.419T>C
1 paper
NM_014270.5
p.C144F
c.431G>T
1 paper
NM_014270.5
p.C144S
c.431G>C
1 paper
NM_014270.5
p.P139fs
c.415_416fs
1 paper
NM_014270.5
p.G143_C144del1
c.428_430delAGC
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.P139fs
c.415_416fs
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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."