Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9

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
1–12 of 519 variants
70 papers
NM_014270.5
p.A182T
c.544G>A
59 papers
NM_014270.5
p.G105R
c.313G>A
56 papers
NM_014270.5
p.G105R
c.313G>C
32 papers
NM_014270.5
p.E483*
c.1447G>T
29 papers
NM_014270.5
p.P122S
c.364C>T
27 papers
NM_014270.5
p.P482L
c.1445C>T
26 papers
NM_014270.5
p.V170M
c.508G>A
26 papers
NM_014270.5
p.R333W
c.997C>T
24 papers
NM_014270.5
p.T123M
c.368C>T
18 papers
NM_014270.5
p.K205insFs
c.614dupA
18 papers
NM_014270.5
p.A354T
c.1060G>A
13 papers
NM_014270.5
p.V142A
c.425T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."