Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.E301fs

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
5 papers
NM_000196.4
p.E301fs
c.901_902fs
Surrounding Variants
2 papers
NM_000196.4
p.I300insFs
c.900dupC
1 paper
NM_000196.4
p.Y299C
c.896A>G
1 paper
NM_000196.4
p.D298H
c.892G>C
1 paper
NM_000196.4
p.D298Y
c.892G>T
5 papers
NM_000196.4
p.Y299del1
c.895_896delTAC
2 papers
NM_000196.4
p.H304R
c.911A>G
3 papers
NM_000196.4
p.G305fs
c.913_914fs
1 paper
NM_000196.4
p.G296A
c.887G>C
1 paper
NM_000196.4
p.G296S
c.886G>A
1 paper
NM_000196.4
p.Y295*
c.885C>A
1 paper
NM_000196.4
p.Y295*
c.885C>G
1 paper
NM_000196.4
p.H309N
c.925C>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."