Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A14
Variant:p.T415M

SLC7A14

89 papers

RefSeq Summary

This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary...

Pfam Domains

AA_permease_2aa 53–443UCSCAmino acid permease
AA_permease_Caa 627–677UCSCC-terminus of AA_permease

Gene Aliases

HGNC Name

solute carrier family 7 member 14

HGNC Alias Symbols

KIAA1613; PPP1R142

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020949.3
p.T415M
c.1244C>T
Surrounding Variants
1 paper
NM_020949.3
p.L416F
c.1246C>T
1 paper
NM_020949.3
p.E409D
c.1227G>T
1 paper
NM_020949.3
p.E409D
c.1227G>C
1 paper
NM_020949.3
p.L428F
c.1282C>T
1 paper
NM_020949.3
p.A396V
c.1187C>T
1 paper
NM_020949.3
p.E434E
c.1302G>A
1 paper
NM_020949.3
p.S391S
c.1173G>A
1 paper
NM_020949.3
p.G439D
c.1316G>A
1 paper
NM_020949.3
p.S391L
c.1172C>T
2 papers
NM_020949.3
p.V390G
c.1169T>G
1 paper
NM_020949.3
p.V390E
c.1169T>A
2 papers
NM_020949.3
p.V390L
c.1168G>T
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