Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A2
Variant:p.F503L

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.F503L
c.1507T>C
Surrounding Variants
1 paper
NM_001370338.1
p.F503L
c.1509C>A
1 paper
NM_001370338.1
p.F503L
c.1509C>G
1 paper
NM_001370338.1
p.I519N
c.1556T>A
1 paper
NM_001370338.1
p.A524D
c.1571C>A
1 paper
NM_001370338.1
p.L527I
c.1579C>A
1 paper
NM_001370338.1
p.A531T
c.1591G>A
2 papers
NM_001370338.1
p.V541I
c.1621G>A
1 paper
NM_001370338.1
p.L542F
c.1624C>T
1 paper
NM_001370338.1
p.P482L
c.1445C>T
1 paper
NM_001370338.1
p.L479H
c.1436T>A
1 paper
NM_001370338.1
p.P456fs
c.1366_1367fs
2 papers
NM_001370338.1
p.G453R
c.1357G>C
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