Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.H472_L473insFs

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.H472_L473insFs
c.1416_1417insAC
Surrounding Variants
1 paper
NM_014270.5
p.L473I
c.1417C>A
1 paper
NM_014270.5
p.H472Y
c.1414C>T
1 paper
NM_014270.5
p.H472N
c.1414C>A
4 papers
NM_014270.5
p.P468L
c.1403C>T
1 paper
NM_014270.5
p.M477L
c.1429A>T
1 paper
NM_014270.5
p.M477L
c.1429A>C
1 paper
NM_014270.5
p.K467E
c.1399A>G
1 paper
NM_014270.5
p.E478A
c.1433A>C
1 paper
NM_014270.5
p.K467Q
c.1399A>C
1 paper
NM_014270.5
p.K467Splc
c.1400-2A>G
1 paper
NM_014270.5
p.V479L
c.1435G>T
1 paper
NM_014270.5
p.V479L
c.1435G>C
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