Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.R333Q

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
5 papers
NM_014270.5
p.R333Q
c.998G>A
Surrounding Variants
1 paper
NM_014270.5
p.R333fs
c.997_998fs
26 papers
NM_014270.5
p.R333W
c.997C>T
2 papers
NM_014270.5
p.E334G
c.1001A>G
1 paper
NM_014270.5
p.A331A
c.993G>A
6 papers
NM_014270.5
p.A331V
c.992C>T
1 paper
NM_014270.5
p.A331G
c.992C>G
1 paper
NM_014270.5
p.H336Y
c.1006C>T
4 papers
NM_014270.5
p.V330M
c.988G>A
1 paper
NM_014270.5
p.M337delFs
c.1009delT
1 paper
NM_014270.5
p.R333_L338delFs
c.997_1012del16
1 paper
NM_014270.5
p.L327delFs
c.979_980delAG
1 paper
NM_014270.5
p.L327fs
c.979_980fs
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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."