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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC14A2

SLC14A2

76 papers

RefSeq Summary

The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentrat...

Pfam Domains

UTaa 119–414UCSCUrea transporter

UTaa 581–876UCSCUrea transporter

Gene Aliases

HGNC Name

solute carrier family 14 member 2

HGNC Alias Symbols

HUT2; UT2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 82 variants

4 papers

chr18:45682443 G>A

NM_007163.4

p.R896H

c.2687G>A

Exome: 1.3% (AC=19346, hom=169)Genome: 0.9% (AC=1350, hom=5)11 overlapping SVs

2 papers

chr18:45627020 A>G

NM_007163.4

p.I132V

c.394A>G

Exome: 93.4% (AC=1364573, hom=638313)Genome: 91.0% (AC=138538, hom=63181)12 overlapping SVs

2 papers

chr18:45666191 G>A

NM_007163.4

p.R510Q

c.1529G>A

Exome: 44.9% (AC=655602, hom=148784)Genome: 41.7% (AC=63312, hom=13664)12 overlapping SVs

2 papers

chr18:45672918 G>A

NM_007163.4

p.V750I

c.2248G>A

Exome: 15.6% (AC=227942, hom=18540)Genome: 14.0% (AC=21278, hom=1633)13 overlapping SVs

1 paper

chr18:45624697 A>G

NM_007163.4

p.P11P

c.33A>G

Exome: n/aGenome: 0.0% (AC=4, hom=0)12 overlapping SVs

1 paper

chr18:45624728 G>A

NM_007163.4

p.E22K

c.64G>A

Exome: 0.0% (AC=52, hom=0)Genome: 0.0% (AC=6, hom=0)12 overlapping SVs

1 paper

chr18:45624761 A>T

NM_007163.4

p.T33S

c.97A>T

Exome: 0.0% (AC=393, hom=4)Genome: 0.0% (AC=16, hom=0)12 overlapping SVs

1 paper

chr18:45624774 C>T

NM_007163.4

p.T37I

c.110C>T

Exome: 3.7% (AC=53466, hom=1170)Genome: 2.8% (AC=4283, hom=85)12 overlapping SVs

1 paper

chr18:45624779 C>G

NM_007163.4

p.P39A

c.115C>G

Exome: 0.1% (AC=2053, hom=5)Genome: 0.1% (AC=109, hom=0)12 overlapping SVs

1 paper

chr18:45624796 G>A

NM_007163.4

p.L44L

c.132G>A

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=8, hom=0)12 overlapping SVs

1 paper

chr18:45625689 C>T

NM_007163.4

p.R53W

c.157C>T

Exome: 0.0% (AC=99, hom=0)Genome: 0.0% (AC=7, hom=0)12 overlapping SVs

1 paper

chr18:45625699 A>G

NM_007163.4

p.N56S

c.167A>G

Exome: 0.0% (AC=15, hom=0)Genome: n/a12 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."