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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC36A2

SLC36A2

59 papers

RefSeq Summary

This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such a...

Pfam Domains

Aa_transaa 52–463UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 36 member 2

HGNC Alias Symbols

PAT2; tramdorin; TRAMD1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

8 papers

chr5:151343594 C>A

NM_181776.3

p.G87V

c.260G>T

Aa_trans

Exome: 1.1% (AC=15676, hom=105)Genome: 0.9% (AC=1306, hom=14)42 overlapping SVs

4 papers

chr5:151347296 C>T

NM_181776.3

p.T55Splc

c.164+1G>A

Aa_trans

Exome: 0.0% (AC=56, hom=2)Genome: 0.0% (AC=3, hom=0)42 overlapping SVs

2 papers

chr5:151344197 C>T

NM_181776.3

p.V79M

c.235G>A

Aa_trans

exact variant not in gnomAD42 overlapping SVs

2 papers

chr5:151344187 G>A

NM_181776.3

p.A82V

c.245C>T

Aa_trans

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=1, hom=0)42 overlapping SVs

2 papers

chr5:151339137 C>T

NM_181776.3

p.V150M

c.448G>A

Aa_trans

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=2, hom=0)42 overlapping SVs

2 papers

chr5:151335486 G>A

NM_181776.3

p.T196I

c.587C>T

Aa_trans

Exome: 0.2% (AC=3087, hom=2)Genome: 0.2% (AC=250, hom=1)43 overlapping SVs

2 papers

chr5:151325338 G>A

NM_181776.3

p.R320W

c.958C>T

Aa_trans

Exome: 0.0% (AC=307, hom=0)Genome: 0.0% (AC=25, hom=0)43 overlapping SVs

2 papers

chr5:151322100 G>A

NM_181776.3

p.R376C

c.1126C>T

Aa_trans

Exome: 0.0% (AC=351, hom=1)Genome: 0.0% (AC=50, hom=0)43 overlapping SVs

1 paper

chr5:151347460 T>G

NM_181776.3

p.M1L

c.1A>C

exact variant not in gnomAD42 overlapping SVs

1 paper

chr5:151347458 C>T

NM_181776.3

p.M1I

c.3G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a42 overlapping SVs

1 paper

chr5:151347396 G>T

NM_181776.3

p.S22*

c.65C>A

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=15, hom=0)42 overlapping SVs

1 paper

chr5:151347384 C>T

NM_181776.3

p.S26N

c.77G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a42 overlapping SVs

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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."