Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2

HSD11B2

152 papers

RefSeq Summary

There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-b...

Pfam Domains

adh_shortaa 83–278UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 11-beta dehydrogenase 2

HGNC Alias Symbol

SDR9C3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 288 variants
42 papers
NM_000196.4
p.R337C
c.1009C>T
33 papers
NM_000196.4
p.R213C
c.637C>T
28 papers
NM_000196.4
p.R208C
c.622C>T
28 papers
NM_000196.4
p.A328V
c.983C>T
27 papers
NM_000196.4
p.P227L
c.680C>T
27 papers
NM_000196.4
p.R279C
c.835C>T
26 papers
NM_000196.4
p.E178E
c.534G>A
26 papers
NM_000196.4
p.R208H
c.623G>A
25 papers
NM_000196.4
p.R186C
c.556C>T
24 papers
NM_000196.4
p.L250P
c.749T>C
21 papers
NM_000196.4
p.R374*
c.1120C>T
19 papers
NM_000196.4
p.S180F
c.539C>T
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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."