Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.K273fs

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
3 papers
NM_000198.4
p.K273fs
c.817_818fs
Surrounding Variants
1 paper
NM_000198.4
p.K273fs
c.817_818fs
2 papers
NM_000198.4
p.K273delFs
c.818_819delAA
4 papers
NM_000198.4
p.I270T
c.809T>C
1 paper
NM_000198.4
p.L277delFs
c.829delC
1 paper
NM_000198.4
p.L277fs
c.829_830fs
1 paper
NM_000198.4
p.R278H
c.833G>A
1 paper
NM_000198.4
p.L279H
c.836T>A
2 papers
NM_000198.4
p.N266fs
c.796_797fs
4 papers
NM_000198.4
p.N266delFs
c.797delA
1 paper
NM_000198.4
p.S281_R282del2
c.841_845del6
1 paper
NM_000198.4
p.S263R
c.789C>A
1 paper
NM_000198.4
p.S263R
c.789C>G
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