Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.N227D

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
3 papers
NM_014270.5
p.N227D
c.679A>G
Surrounding Variants
1 paper
NM_014270.5
p.N227K
c.681T>A
1 paper
NM_014270.5
p.A224A
c.672G>A
10 papers
NM_014270.5
p.A224V
c.671C>T
3 papers
NM_014270.5
p.L229L
c.687C>T
1 paper
NM_014270.5
p.A224E
c.671C>A
2 papers
NM_014270.5
p.W230R
c.688T>C
2 papers
NM_014270.5
p.W230R
c.688T>A
1 paper
NM_014270.5
p.W230*
c.689G>A
1 paper
NM_014270.5
p.W230*
c.690G>A
2 papers
NM_014270.5
p.A231T
c.691G>A
12 papers
NM_014270.5
p.L223M
c.667C>A
2 papers
NM_014270.5
p.A231V
c.692C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."