Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.E178E

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
Selected Variant
26 papers
NM_000196.4
p.E178E
c.534G>A
Surrounding Variants
16 papers
NM_000196.4
p.L179R
c.536T>G
19 papers
NM_000196.4
p.S180F
c.539C>T
1 paper
NM_000196.4
p.P181S
c.541C>T
7 papers
NM_000196.4
p.D176N
c.526G>A
1 paper
NM_000196.4
p.V182delFs
c.544delG
1 paper
NM_000196.4
p.E172delFs
c.516delA
9 papers
NM_000196.4
p.F185S
c.554T>C
1 paper
NM_000196.4
p.N171S
c.512A>G
25 papers
NM_000196.4
p.R186C
c.556C>T
1 paper
NM_000196.4
p.N171delFs
c.512delA
1 paper
NM_000196.4
p.M189V
c.565A>G
1 paper
NM_000196.4
p.A168T
c.502G>A
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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."