Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A14
Variant:p.R556Q

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.R556Q
c.1667G>A
Surrounding Variants
1 paper
NM_020949.3
p.T517I
c.1550C>T
1 paper
NM_020949.3
p.L599F
c.1795C>T
1 paper
NM_020949.3
p.G512C
c.1534G>T
1 paper
NM_020949.3
p.V602F
c.1804G>T
1 paper
NM_020949.3
p.P509fs
c.1525_1526fs
1 paper
NM_020949.3
p.H508R
c.1523A>G
1 paper
NM_020949.3
p.N507S
c.1520A>G
1 paper
NM_020949.3
p.N505Y
c.1513A>T
1 paper
NM_020949.3
p.T610S
c.1828A>T
1 paper
NM_020949.3
p.T610S
c.1829C>G
1 paper
NM_020949.3
p.E493E
c.1479G>A
1 paper
NM_020949.3
p.P630P
c.1890T>G
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