Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A14
Variant:p.L766S

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.L766S
c.2297T>C
Surrounding Variants
1 paper
NM_020949.3
p.D767delFs
c.2299delC
1 paper
NM_020949.3
p.E765delFs
c.2293delC
1 paper
NM_020949.3
p.S751_K752del0
c.2251_2256del6
1 paper
NM_020949.3
p.K750R
c.2249A>G
1 paper
NM_020949.3
p.Y710fs
c.2128_2129fs
1 paper
NM_020949.3
p.F708V
c.2122T>G
1 paper
NM_020949.3
p.V698V
c.2094G>A
3 papers
NM_020949.3
p.R695C
c.2083C>T
1 paper
NM_020949.3
p.S682S
c.2046C>T
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