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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD3B2

HSD3B2

249 papers

RefSeq Summary

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a cruci...

Pfam Domains

3Beta_HSDaa 6–287UCSC3-beta hydroxysteroid dehydrogenase/isomerase family

Gene Aliases

HGNC Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

HGNC Alias Symbol

SDR11E2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 369 variants

29 papers

chr1:119422277 C>T

NM_000198.4

p.T259M

c.776C>T

3Beta_HSD

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=2, hom=0)246 overlapping SVs

27 papers

chr1:119415448 C>A

NM_000198.4

p.A10E

c.29C>A

3Beta_HSD

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)244 overlapping SVs

22 papers

chr1:119419519 G>A

NM_000198.4

p.A82T

c.244G>A

3Beta_HSD

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=7, hom=0)244 overlapping SVs

21 papers

chr1:119421886 G>A

NM_000198.4

p.G129R

c.385G>A

3Beta_HSD

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=3, hom=0)247 overlapping SVs

21 papers

chr1:119421886 G>C

NM_000198.4

p.G129R

c.385G>C

3Beta_HSD

exact variant not in gnomAD247 overlapping SVs

21 papers

chr1:119422001 C>T

NM_000198.4

p.A167V

c.500C>T

3Beta_HSD

Exome: 0.1% (AC=1821, hom=6)Genome: 0.1% (AC=147, hom=0)246 overlapping SVs

21 papers

chr1:119422261 T>G

NM_000198.4

p.Y254D

c.760T>G

3Beta_HSD

Exome: 0.0% (AC=7, hom=0)Genome: n/a246 overlapping SVs

20 papers

chr1:119422013 G>A

NM_000198.4

p.W171*

c.512G>A

3Beta_HSD

Exome: 0.0% (AC=4, hom=0)Genome: n/a246 overlapping SVs

19 papers

chr1:119421925 G>A

NM_000198.4

p.E142K

c.424G>A

3Beta_HSD

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=1, hom=0)246 overlapping SVs

19 papers

chr1:119422014 G>A

NM_000198.4

p.W171*

c.513G>A

3Beta_HSD

exact variant not in gnomAD246 overlapping SVs

19 papers

chr1:119422166 C>A

NM_000198.4

p.P222Q

c.665C>A

3Beta_HSD

Exome: 0.0% (AC=4, hom=0)Genome: n/a246 overlapping SVs

17 papers

chr1:119422208 T>C

NM_000198.4

p.L236S

c.707T>C

3Beta_HSD

Exome: 0.1% (AC=2021, hom=40)Genome: 1.2% (AC=1823, hom=32)246 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."