Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.L124P

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
9 papers
NM_003982.4
p.L124P
c.371T>C
Surrounding Variants
1 paper
NM_003982.4
p.I127T
c.380T>C
1 paper
NM_003982.4
p.W121R
c.361T>C
1 paper
NM_003982.4
p.W121R
c.361T>A
1 paper
NM_003982.4
p.L120_W121delins
c.360_361delinsAA
1 paper
NM_003982.4
p.L115_A116delFs
c.344_347del4
1 paper
NM_003982.4
p.I135delFs
c.404delA
1 paper
NM_003982.4
p.F111L
c.333T>G
1 paper
NM_003982.4
p.F111L
c.333T>A
1 paper
NM_003982.4
p.F111L
c.331T>C
1 paper
NM_003982.4
p.A140P
c.418G>C
2 papers
NM_003982.4
p.N141S
c.422A>G
1 paper
NM_003982.4
p.P149P
c.447G>T
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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."