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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AGXT2

AGXT2

95 papers

RefSeq Summary

The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. I...

Pfam Domains

Aminotran_3aa 79–505UCSCAminotransferase class-III

Gene Aliases

HGNC Name

alanine--glyoxylate aminotransferase 2

HGNC Alias Symbol

AGT2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 80 variants

28 papers

chr5:35037010 C>T

NM_031900.4

p.V140I

c.418G>A

Aminotran_3

Exome: 13.0% (AC=190486, hom=23859)Genome: 25.4% (AC=38595, hom=8230)67 overlapping SVs

7 papers

chr5:35039381 C>T

NM_031900.4

p.S102N

c.305G>A

Aminotran_3

Exome: 87.9% (AC=1285030, hom=569452)Genome: 89.4% (AC=136056, hom=61477)66 overlapping SVs

7 papers

chr5:34998772 C>A

NM_031900.4

p.V498L

c.1492G>T

Aminotran_3

Exome: 23.6% (AC=344651, hom=42700)Genome: 19.4% (AC=29502, hom=3457)67 overlapping SVs

7 papers

chr5:34998772 C>G

NM_031900.4

p.V498L

c.1492G>C

Aminotran_3

Exome: 0.0% (AC=1, hom=0)Genome: n/a67 overlapping SVs

4 papers

chr5:35033500 G>A

NM_031900.4

p.T212I

c.635C>T

Aminotran_3

Exome: 98.1% (AC=1433184, hom=704511)Genome: 93.6% (AC=142526, hom=67233)67 overlapping SVs

2 papers

chr5:35039465 A>T

NM_031900.4

p.L74H

c.221T>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a66 overlapping SVs

2 papers

chr5:35037034 C>G

NM_031900.4

p.G132R

c.394G>C

Aminotran_3

Exome: 0.2% (AC=3471, hom=118)Genome: 2.2% (AC=3358, hom=120)67 overlapping SVs

2 papers

chr5:35013027 G>A

NM_031900.4

p.A372V

c.1115C>T

Aminotran_3

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=2, hom=0)67 overlapping SVs

2 papers

chr5:35012953 C>T

NM_031900.4

p.E396_V397Splc

c.1188+1G>A

Aminotran_3

Exome: 1.6% (AC=22251, hom=241)Genome: 1.2% (AC=1875, hom=20)67 overlapping SVs

2 papers

chr5:34998789 G>C

NM_031900.4

p.P492R

c.1475C>G

Aminotran_3

Exome: 6.7% (AC=97420, hom=3784)Genome: 5.1% (AC=7749, hom=276)67 overlapping SVs

1 paper

chr5:35047876 C>T

NM_031900.4

p.R6K

c.17G>A

Exome: 0.1% (AC=769, hom=5)Genome: 0.0% (AC=53, hom=0)66 overlapping SVs

1 paper

chr5:35047861 G>A

NM_031900.4

p.P11L

c.32C>T

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=2, hom=0)66 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."