Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A2
Variant:p.S79T

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.S79T
c.235T>A
Surrounding Variants
1 paper
NM_001370338.1
p.L73I
c.217C>A
1 paper
NM_001370338.1
p.L73F
c.217C>T
1 paper
NM_001370338.1
p.S71T
c.211T>A
1 paper
NM_001370338.1
p.G65S
c.193G>A
1 paper
NM_003046.6
p.G105R
c.313G>C
1 paper
NM_001370338.1
p.P94S
c.280C>T
1 paper
NM_001370338.1
p.T96M
c.287C>T
1 paper
NM_001370338.1
p.K61M
c.182A>T
1 paper
NM_001370338.1
p.G97E
c.290G>A
1 paper
NM_001370338.1
p.A60V
c.179C>T
1 paper
NM_001370338.1
p.S98C
c.293C>G
1 paper
NM_001370338.1
p.G57G
c.171G>C
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