Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.K102R

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000198.4
p.K102R
c.305A>G
Surrounding Variants
3 papers
NM_000198.4
p.G103Splc
c.307+1G>A
1 paper
NM_000198.4
p.G103V
c.308G>T
2 papers
NM_000198.4
p.V101L
c.301G>C
2 papers
NM_000198.4
p.V101L
c.301G>T
14 papers
NM_000198.4
p.N100S
c.299A>G
1 paper
NM_000198.4
p.V99F
c.295G>T
1 paper
NM_000198.4
p.M97I
c.291G>C
1 paper
NM_000198.4
p.E94E
c.282G>A
1 paper
NM_000198.4
p.E94K
c.280G>A
3 papers
NM_000198.4
p.E94Q
c.280G>C
1 paper
NM_000198.4
p.E94fs
c.280_281fs
1 paper
NM_000198.4
p.R93delFs
c.279delA
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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."