Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A2
Variant:p.F254L

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
Selected Variant
1 paper
NM_001370338.1
p.F254L
c.762T>G
Surrounding Variants
1 paper
NM_001370338.1
p.F254L
c.762T>A
1 paper
NM_001370338.1
p.F254L
c.760T>C
2 papers
NM_001370338.1
p.Y252H
c.754T>C
1 paper
NM_001370338.1
p.P251L
c.752C>T
1 paper
NM_001370338.1
p.A259T
c.775G>A
1 paper
NM_001370338.1
p.M250T
c.749T>C
1 paper
NM_001370338.1
p.G247S
c.739G>A
1 paper
NM_001370338.1
p.P236L
c.707C>T
1 paper
NM_001370338.1
p.T276I
c.827C>T
1 paper
NM_001370338.1
p.E279*
c.835G>T
1 paper
NM_001370338.1
p.A287T
c.859G>A
2 papers
NM_001370338.1
p.I292delFs
c.874delA
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