Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.Y339*

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
2 papers
NM_000196.4
p.Y339*
c.1017C>A
Surrounding Variants
2 papers
NM_000196.4
p.Y339*
c.1017C>G
1 paper
NM_000196.4
p.Y339F
c.1016A>T
1 paper
NM_000196.4
p.Y339H
c.1015T>C
1 paper
NM_000196.4
p.Y338C
c.1013A>G
1 paper
NM_000196.4
p.Y338F
c.1013A>T
1 paper
NM_000196.4
p.G341S
c.1021G>A
9 papers
NM_000196.4
p.Y338H
c.1012T>C
1 paper
NM_000196.4
p.Y338D
c.1012T>G
1 paper
NM_000196.4
p.Q342fs
c.1024_1025fs
3 papers
NM_000196.4
p.Q342fs
c.1024_1025fs
19 papers
NM_000196.4
p.R337H
c.1010G>A
42 papers
NM_000196.4
p.R337C
c.1009C>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."