Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A2

SLC7A2

79 papers

RefSeq Summary

The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible fo...

Pfam Domains

AA_permease_2aa 34–447UCSCAmino acid permease
AA_permease_Caa 556–606UCSCC-terminus of AA_permease

Gene Aliases

HGNC Name

solute carrier family 7 member 2

HGNC Previous Symbol

ATRC2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
3 papers
NM_001370338.1
p.V44I
c.130G>A
3 papers
NM_001370338.1
p.D441N
c.1321G>A
3 papers
NM_001370338.1
p.T583S
c.1748C>G
2 papers
NM_001370338.1
p.R16Q
c.47G>A
2 papers
NM_001370338.1
p.Y252H
c.754T>C
2 papers
NM_001370338.1
p.I292delFs
c.874delA
2 papers
NM_001370338.1
p.I292fs
c.874_875fs
2 papers
NM_001370338.1
p.D406Y
c.1216G>T
2 papers
NM_001370338.1
p.G453R
c.1357G>C
2 papers
NM_001370338.1
p.V541I
c.1621G>A
2 papers
NM_001370338.1
p.T583S
c.1747A>T
2 papers
NM_001370338.1
p.S588N
c.1763G>A
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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."