Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.K205insFs

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
18 papers
NM_014270.5
p.K205insFs
c.614dupA
Surrounding Variants
1 paper
NM_014270.5
p.K205N
c.615G>T
1 paper
NM_014270.5
p.K205fs
c.613_614fs
1 paper
NM_014270.5
p.K205N
c.615G>C
6 papers
NM_014270.5
p.N206fs
c.616_617fs
1 paper
NM_014270.5
p.N206Y
c.616A>T
1 paper
NM_014270.5
p.T204delFs
c.611_612delTG
2 papers
NM_014270.5
p.N206fs
c.616_617fs
1 paper
NM_014270.5
p.T204fs
c.610_611fs
1 paper
NM_014270.5
p.T204insFs
c.611_612insA
1 paper
NM_014270.5
p.D208E
c.624T>A
1 paper
NM_014270.5
p.G202V
c.605G>T
1 paper
NM_014270.5
p.G202R
c.604G>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."