Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A14

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
1–12 of 97 variants
14 papers
NM_020949.3
p.G330R
c.988G>A
12 papers
NM_020949.3
p.G330R
c.988G>C
9 papers
NM_020949.3
p.C464F
c.1391G>T
3 papers
NM_020949.3
p.R695C
c.2083C>T
2 papers
NM_020949.3
p.A242V
c.725C>T
2 papers
NM_020949.3
p.V390L
c.1168G>T
2 papers
NM_020949.3
p.V390L
c.1168G>C
2 papers
NM_020949.3
p.V390G
c.1169T>G
1 paper
NM_020949.3
p.M1K
c.2T>A
1 paper
NM_020949.3
p.V13M
c.37G>A
1 paper
NM_020949.3
p.T43M
c.128C>T
1 paper
NM_020949.3
p.K48*
c.142A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."