Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.C425R

SLC7A7

221 papers

RefSeq Summary

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the...

Pfam Domains

AA_permease_2aa 37–460UCSCAmino acid permease

Gene Aliases

HGNC Name

solute carrier family 7 member 7

HGNC Previous Symbol

LPI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_003982.4
p.C425R
c.1273T>C
Surrounding Variants
1 paper
NM_003982.4
p.I422delFs
c.1266delA
1 paper
NM_003982.4
p.I422fs
c.1264_1265fs
1 paper
NM_003982.4
p.L416_P421delFs
c.1246_1262del17
1 paper
NM_003982.4
p.L416fs
c.1246_1247fs
1 paper
NM_003982.4
p.P435L
c.1304C>T
1 paper
NM_003982.4
p.S443C
c.1328C>G
1 paper
NM_003982.4
p.L444insFs
c.1330dupC
1 paper
NM_003982.4
p.A448V
c.1343C>T
1 paper
NM_003982.4
p.I449V
c.1345A>G
1 paper
NM_003982.4
p.A450T
c.1348G>A
1 paper
NM_003982.4
p.S452delFs
c.1354_1355delGA
9 papers
NM_003982.4
p.Y457*
c.1371C>G
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."