Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A2
Variant:p.M414R

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.M414R
c.1241T>G
Surrounding Variants
2 papers
NM_001370338.1
p.D406Y
c.1216G>T
1 paper
NM_001370338.1
p.V425M
c.1273G>A
1 paper
NM_001370338.1
p.I431T
c.1292T>C
1 paper
NM_001370338.1
p.Y434C
c.1301A>G
3 papers
NM_001370338.1
p.D441N
c.1321G>A
1 paper
NM_003046.6
p.P482L
c.1445C>T
2 papers
NM_001370338.1
p.G453R
c.1357G>C
1 paper
NM_001370338.1
p.P456fs
c.1366_1367fs
1 paper
NM_001370338.1
p.L479H
c.1436T>A
1 paper
NM_001370338.1
p.P482L
c.1445C>T
1 paper
NM_001370338.1
p.F503L
c.1507T>C
1 paper
NM_001370338.1
p.F503L
c.1509C>A
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