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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD3B1

HSD3B1

167 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classe...

Pfam Domains

3Beta_HSDaa 7–288UCSC3-beta hydroxysteroid dehydrogenase/isomerase family

Gene Aliases

HGNC Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

HGNC Previous Symbol

HSDB3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 107 variants

14 papers

chr1:119514623 C>A

NM_000862.3

p.T367N

c.1100C>A

Exome: 70.5% (AC=1030890, hom=367156)Genome: 76.4% (AC=115875, hom=44941)249 overlapping SVs

9 papers

chr1:119511569 G>T

NM_000862.3

p.R71I

c.212G>T

3Beta_HSD

Exome: 0.7% (AC=10257, hom=39)Genome: 0.5% (AC=706, hom=3)249 overlapping SVs

8 papers

chr1:119514283 T>G

NM_000862.3

p.Y254D

c.760T>G

3Beta_HSD

exact variant not in gnomAD249 overlapping SVs

7 papers

chr1:119514247 G>A

NM_000862.3

p.D242N

c.724G>A

3Beta_HSD

Exome: 0.0% (AC=263, hom=1)Genome: 0.0% (AC=33, hom=0)249 overlapping SVs

6 papers

chr1:119514535 C>T

NM_000862.3

p.L338L

c.1012C>T

Exome: 44.1% (AC=644912, hom=146906)Genome: 36.0% (AC=54644, hom=12170)249 overlapping SVs

5 papers

chr1:119511592 A>G

NM_000862.3

p.I79V

c.235A>G

3Beta_HSD

Exome: 1.7% (AC=25209, hom=2568)Genome: 10.0% (AC=15276, hom=2307)249 overlapping SVs

4 papers

chr1:119514359 G>A

NM_000862.3

p.R279H

c.836G>A

3Beta_HSD

Exome: 0.1% (AC=1363, hom=6)Genome: 0.1% (AC=165, hom=2)249 overlapping SVs

4 papers

chr1:119514379 T>C

NM_000862.3

p.F286L

c.856T>C

3Beta_HSD

Exome: 1.9% (AC=28251, hom=3385)Genome: 11.8% (AC=17949, hom=3228)249 overlapping SVs

4 papers

chr1:119514381 T>A

NM_000862.3

p.F286L

c.858T>A

3Beta_HSD

exact variant not in gnomAD249 overlapping SVs

4 papers

chr1:119514381 T>G

NM_000862.3

p.F286L

c.858T>G

3Beta_HSD

Exome: 0.0% (AC=1, hom=0)Genome: n/a249 overlapping SVs

2 papers

chr1:119507612 G>A

NM_000862.3

p.E46K

c.136G>A

3Beta_HSD

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=3, hom=0)248 overlapping SVs

2 papers

chr1:119511535 G>A

NM_000862.3

p.E60K

c.178G>A

3Beta_HSD

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)249 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."