Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A14
Variant:p.G330R

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
12 papers
NM_020949.3
p.G330R
c.988G>C
Surrounding Variants
14 papers
NM_020949.3
p.G330R
c.988G>A
1 paper
NM_020949.3
p.M323I
c.969G>T
1 paper
NM_020949.3
p.M323I
c.969G>C
1 paper
NM_020949.3
p.M323I
c.969G>A
1 paper
NM_020949.3
p.L307_T308insFs
c.920_923dup4
1 paper
NM_020949.3
p.P358P
c.1074G>A
1 paper
NM_020949.3
p.V360G
c.1079T>G
1 paper
NM_020949.3
p.G368R
c.1102G>C
1 paper
NM_020949.3
p.G368R
c.1102G>A
1 paper
NM_020949.3
p.Y380C
c.1139A>G
2 papers
NM_020949.3
p.V390L
c.1168G>T
2 papers
NM_020949.3
p.V390L
c.1168G>C
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