Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.I221ins1

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.I221ins1
c.661_662insGCC
Surrounding Variants
1 paper
NM_014270.5
p.I221V
c.661A>G
1 paper
NM_014270.5
p.A220V
c.659C>T
12 papers
NM_014270.5
p.L223M
c.667C>A
10 papers
NM_014270.5
p.A224V
c.671C>T
1 paper
NM_014270.5
p.A224E
c.671C>A
1 paper
NM_014270.5
p.A224A
c.672G>A
1 paper
NM_014270.5
p.S217C
c.650C>G
1 paper
NM_014270.5
p.Q215Q
c.645G>A
1 paper
NM_014270.5
p.Q215*
c.643C>T
3 papers
NM_014270.5
p.N227D
c.679A>G
1 paper
NM_014270.5
p.N227K
c.681T>A
1 paper
NM_014270.5
p.A214T
c.640G>A
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