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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD3B1

Variant:p.V76I

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

Selected Variant

1 paper

chr1:119511583 G>A

NM_000862.3

p.V76I

c.226G>A

3Beta_HSD

Exome: 0.0% (AC=147, hom=0)Genome: 0.0% (AC=6, hom=0)249 overlapping SVs

Surrounding Variants

1 paper

chr1:119511587 C>T

NM_000862.3

p.S77L

c.230C>T

3Beta_HSD

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=4, hom=0)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

2 papers

chr1:119511593 T>C

NM_000862.3

p.I79T

c.236T>C

3Beta_HSD

exact variant not in gnomAD249 overlapping SVs

1 paper

chr1:119511572 C>T

NM_000862.3

p.A72V

c.215C>T

3Beta_HSD

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)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

1 paper

chr1:119511566 A>G

NM_000862.3

p.K70R

c.209A>G

3Beta_HSD

exact variant not in gnomAD249 overlapping SVs

1 paper

chr1:119511604 G>A

NM_000862.3

p.A83T

c.247G>A

3Beta_HSD

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=1, hom=0)249 overlapping SVs

2 papers

chr1:119511553 G>A

NM_000862.3

p.E66K

c.196G>A

3Beta_HSD

Exome: 0.0% (AC=568, hom=6)Genome: 0.0% (AC=28, hom=0)249 overlapping SVs

2 papers

chr1:119511625 G>A

NM_000862.3

p.G90S

c.268G>A

3Beta_HSD

Exome: 0.0% (AC=225, hom=1)Genome: 0.1% (AC=198, hom=0)249 overlapping SVs

2 papers

chr1:119511536 A>G

NM_000862.3

p.E60G

c.179A>G

3Beta_HSD

Exome: 0.0% (AC=293, hom=0)Genome: 0.0% (AC=24, hom=0)249 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

2 papers

chr1:119511644 C>T

NM_000862.3

p.S96F

c.287C>T

3Beta_HSD

Exome: 0.0% (AC=195, hom=0)Genome: 0.0% (AC=13, hom=0)249 overlapping SVs

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