Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A14
Variant:p.K48*

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.K48*
c.142A>T
Surrounding Variants
1 paper
NM_020949.3
p.T43M
c.128C>T
1 paper
NM_020949.3
p.G62G
c.186C>T
1 paper
NM_020949.3
p.S65S
c.195C>T
1 paper
NM_020949.3
p.V13M
c.37G>A
1 paper
NM_020949.3
p.A83A
c.249A>G
1 paper
NM_020949.3
p.G86G
c.258T>G
1 paper
NM_020949.3
p.M1K
c.2T>A
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