Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC7A14

Variant:p.F213L

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:170498787 G>C

NM_020949.3

p.F213L

c.639C>G

AA_permease_2

exact variant not in gnomAD61 overlapping SVs

Surrounding Variants

1 paper

chr3:170498787 G>T

NM_020949.3

p.F213L

c.639C>A

AA_permease_2

Exome: 0.0% (AC=165, hom=0)Genome: 0.0% (AC=20, hom=0)61 overlapping SVs

1 paper

chr3:170498789 A>G

NM_020949.3

p.F213L

c.637T>C

AA_permease_2

exact variant not in gnomAD61 overlapping SVs

1 paper

chr3:170498790 G>A

NM_020949.3

p.G212G

c.636C>T

AA_permease_2

Exome: 0.0% (AC=39, hom=0)Genome: 0.0% (AC=3, hom=0)61 overlapping SVs

1 paper

chr3:170498800 T>C

NM_020949.3

p.N209S

c.626A>G

AA_permease_2

Exome: 0.0% (AC=20, hom=0)Genome: n/a61 overlapping SVs

1 paper

chr3:170498752 C>G

NM_020949.3

p.W225S

c.674G>C

AA_permease_2

Exome: 0.0% (AC=2, hom=0)Genome: n/a61 overlapping SVs

1 paper

chr3:170498752 C>T

NM_020949.3

p.W225*

c.674G>A

AA_permease_2

exact variant not in gnomAD61 overlapping SVs

1 paper

chr3:170498751 C>T

NM_020949.3

p.W225*

c.675G>A

AA_permease_2

exact variant not in gnomAD61 overlapping SVs

1 paper

chr3:170498831 C>T

NM_020949.3

p.V199M

c.595G>A

AA_permease_2

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=10, hom=0)61 overlapping SVs

1 paper

chr3:170498735 C>T

NM_020949.3

p.A231T

c.691G>A

AA_permease_2

Exome: 0.0% (AC=506, hom=0)Genome: 0.0% (AC=51, hom=0)61 overlapping SVs

1 paper

chr3:170498844 C>T

NM_020949.3

p.L194L

c.582G>A

AA_permease_2

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=1, hom=0)61 overlapping SVs

1 paper

chr3:170498704 C>T

NM_020949.3

p.W241*

c.722G>A

AA_permease_2

exact variant not in gnomAD61 overlapping SVs

2 papers

chr3:170498701 G>A

NM_020949.3

p.A242V

c.725C>T

AA_permease_2

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=5, hom=0)61 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."