Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.S386R

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
3 papers
NM_003982.4
p.S386R
c.1156A>C
Surrounding Variants
3 papers
NM_003982.4
p.S386R
c.1158C>G
3 papers
NM_003982.4
p.S386R
c.1158C>A
1 paper
NM_003982.4
p.Q380*
c.1138C>T
1 paper
NM_003982.4
p.D377G
c.1130A>G
2 papers
NM_003982.4
p.S396fs
c.1186_1187fs
2 papers
NM_003982.4
p.S396fs
c.1186_1187fs
1 paper
NM_003982.4
p.I397V
c.1189A>G
18 papers
NM_003982.4
p.L395_S396delFs
c.1185_1188del4
1 paper
NM_003982.4
p.C374*
c.1122C>A
1 paper
NM_003982.4
p.Y372*
c.1116C>G
1 paper
NM_003982.4
p.Y372*
c.1116C>A
2 papers
NM_003982.4
p.I367insFs
c.1099_1100insT
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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."