Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.I344I

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.I344I
c.1032C>T
Surrounding Variants
1 paper
NM_014270.5
p.V346I
c.1036G>A
1 paper
NM_014270.5
p.Y343S
c.1028A>C
2 papers
NM_014270.5
p.V346A
c.1037T>C
1 paper
NM_014270.5
p.R347T
c.1040G>C
1 paper
NM_014270.5
p.R348C
c.1042C>T
1 paper
NM_014270.5
p.R348H
c.1043G>A
1 paper
NM_014270.5
p.V340fs
c.1018_1019fs
2 papers
NM_014270.5
p.K339delFs
c.1017delT
1 paper
NM_014270.5
p.R333_L338delFs
c.997_1012del16
1 paper
NM_014270.5
p.P351L
c.1052C>T
1 paper
NM_014270.5
p.T350_P351delFs
c.1048_1051del4
1 paper
NM_014270.5
p.M337delFs
c.1009delT
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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."