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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKR1C3

AKR1C3

195 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 C3

HGNC Previous Symbol

HSD17B5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 152 variants

30 papers

chr10:5094459 C>G

NM_003739.6

p.H5Q

c.15C>G

Exome: 43.3% (AC=632069, hom=146005)Genome: 45.6% (AC=69181, hom=16664)16 overlapping SVs

25 papers

chr10:5094459 C>A

NM_003739.6

p.H5Q

c.15C>A

exact variant not in gnomAD16 overlapping SVs

18 papers

chr10:5096555 A>G

NM_003739.6

p.E77G

c.230A>G

Aldo_ket_red

Exome: 5.8% (AC=85202, hom=2889)Genome: 5.2% (AC=7983, hom=276)16 overlapping SVs

15 papers

chr10:5099417 C>T

NM_003739.6

p.P180S

c.538C>T

Aldo_ket_red

Exome: 1.6% (AC=23014, hom=261)Genome: 1.4% (AC=2064, hom=19)16 overlapping SVs

7 papers

chr10:5094515 A>G

NM_003739.6

p.Y24C

c.71A>G

Aldo_ket_red

Exome: 0.0% (AC=27, hom=0)Genome: n/a16 overlapping SVs

7 papers

chr10:5096522 G>A

NM_003739.6

p.R66Q

c.197G>A

Aldo_ket_red

Exome: 0.2% (AC=3542, hom=106)Genome: 2.3% (AC=3504, hom=143)16 overlapping SVs

6 papers

chr10:5096415 G>A

NM_003739.6

p.P30P

c.90G>A

Aldo_ket_red

Exome: 33.6% (AC=490762, hom=87968)Genome: 32.2% (AC=48984, hom=8461)16 overlapping SVs

6 papers

chr10:5099427 A>G

NM_003739.6

p.K183R

c.548A>G

Aldo_ket_red

Exome: 0.2% (AC=3469, hom=7)Genome: 0.2% (AC=284, hom=1)16 overlapping SVs

6 papers

chr10:5102576 C>T

NM_003739.6

p.R258C

c.772C>T

Aldo_ket_red

Exome: 0.6% (AC=9014, hom=400)Genome: 1.2% (AC=1781, hom=86)16 overlapping SVs

5 papers

chr10:5098866 G>A

NM_003739.6

p.C145Y

c.434G>A

Aldo_ket_red

Exome: 0.1% (AC=1437, hom=27)Genome: 0.1% (AC=166, hom=2)16 overlapping SVs

5 papers

chr10:5099387 C>T

NM_003739.6

p.R170C

c.508C>T

Aldo_ket_red

Exome: 0.0% (AC=299, hom=1)Genome: 0.0% (AC=60, hom=0)16 overlapping SVs

3 papers

chr10:5099340 G>A

NM_003739.6

p.C154Y

c.461G>A

Aldo_ket_red

Exome: 0.0% (AC=1, 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."