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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKR1C4

AKR1C4

311 papers

RefSeq Summary

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their co...

Pfam Domains

Aldo_ket_redaa 18–301UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member C4

HGNC Previous Symbol

CHDR

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 156 variants

27 papers

chr10:5218719 C>G

NM_001818.5

p.L311V

c.931C>G

Exome: 14.1% (AC=203908, hom=15344)Genome: 11.3% (AC=17163, hom=1185)16 overlapping SVs

16 papers

chr10:5205821 C>G

NM_001818.5

p.S145C

c.434C>G

Aldo_ket_red

Exome: 14.4% (AC=210218, hom=15972)Genome: 11.3% (AC=17198, hom=1186)17 overlapping SVs

7 papers

chr10:5213062 A>G

NM_001818.5

p.Q250R

c.749A>G

Aldo_ket_red

Exome: 100.0% (AC=1461776, hom=730841)Genome: 100.0% (AC=152281, hom=76131)16 overlapping SVs

5 papers

chr10:5205791 G>A

NM_001818.5

p.G135E

c.404G>A

Aldo_ket_red

Exome: 0.3% (AC=3819, hom=137)Genome: 2.5% (AC=3830, hom=161)17 overlapping SVs

5 papers

chr10:5213086 G>A

NM_001818.5

p.R258H

c.773G>A

Aldo_ket_red

Exome: 0.0% (AC=68, hom=0)Genome: 0.0% (AC=8, hom=0)16 overlapping SVs

3 papers

chr10:5196868 A>G

NM_001818.5

p.M1V

c.1A>G

exact variant not in gnomAD16 overlapping SVs

3 papers

chr10:5200201 A>G

NM_001818.5

p.V35V

c.105A>G

Aldo_ket_red

Exome: 22.0% (AC=320870, hom=36440)Genome: 18.6% (AC=28402, hom=2875)16 overlapping SVs

3 papers

chr10:5200236 G>A

NM_001818.5

p.R47H

c.140G>A

Aldo_ket_red

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=12, hom=0)16 overlapping SVs

2 papers

chr10:5200188 G>A

NM_001818.5

p.R31K

c.92G>A

Aldo_ket_red

exact variant not in gnomAD16 overlapping SVs

2 papers

chr10:5200189 G>C

NM_001818.5

p.R31S

c.93G>C

Aldo_ket_red

exact variant not in gnomAD16 overlapping SVs

2 papers

chr10:5200189 G>T

NM_001818.5

p.R31S

c.93G>T

Aldo_ket_red

exact variant not in gnomAD16 overlapping SVs

2 papers

chr10:5200293 G>A

NM_001818.5

p.R66Q

c.197G>A

Aldo_ket_red

Exome: 0.0% (AC=11, hom=0)Genome: n/a16 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."