Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.P481L

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.P481L
c.1442C>T
Surrounding Variants
1 paper
NM_014270.5
p.P481A
c.1441C>G
2 papers
NM_014270.5
p.P482S
c.1444C>T
2 papers
NM_014270.5
p.P482A
c.1444C>G
1 paper
NM_014270.5
p.V480A
c.1439T>C
27 papers
NM_014270.5
p.P482L
c.1445C>T
1 paper
NM_014270.5
p.V480L
c.1438G>C
32 papers
NM_014270.5
p.E483*
c.1447G>T
1 paper
NM_014270.5
p.V479A
c.1436T>C
1 paper
NM_014270.5
p.E483A
c.1448A>C
1 paper
NM_014270.5
p.V479L
c.1435G>T
1 paper
NM_014270.5
p.V479L
c.1435G>C
1 paper
NM_014270.5
p.E484A
c.1451A>C
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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."