Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.R171G

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.R171G
c.511C>G
Surrounding Variants
4 papers
NM_014270.5
p.R171W
c.511C>T
1 paper
NM_014270.5
p.R171Q
c.512G>A
26 papers
NM_014270.5
p.V170M
c.508G>A
4 papers
NM_014270.5
p.S169S
c.507C>T
2 papers
NM_014270.5
p.S167_L168delFs
c.501_504del4
7 papers
NM_014270.5
p.G173R
c.517G>C
7 papers
NM_014270.5
p.G173R
c.517G>A
2 papers
NM_014270.5
p.S174insFs
c.520_521insT
1 paper
NM_014270.5
p.S174insFs
c.521_522insT
1 paper
NM_014270.5
p.S167L
c.500C>T
1 paper
NM_014270.5
p.Y175F
c.524A>T
1 paper
NM_014270.5
p.Y175*
c.525C>G
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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."