Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.V273M

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
1 paper
NM_000196.4
p.V273M
c.817G>A
Surrounding Variants
1 paper
NM_000196.4
p.V273insFs
c.818dupT
1 paper
NM_000196.4
p.S269*
c.806C>A
1 paper
NM_000196.4
p.S269*
c.806C>G
1 paper
NM_000196.4
p.E268Splc
c.803-1G>T
1 paper
NM_000196.4
p.E268Splc
c.803-2A>G
1 paper
NM_000196.4
p.E268delFs
c.803_804delAG
27 papers
NM_000196.4
p.R279C
c.835C>T
1 paper
NM_000196.4
p.L284R
c.851T>G
1 paper
NM_000196.4
p.N286fs
c.856_857fs
4 papers
NM_000196.4
p.L287fs
c.859_860fs
1 paper
NM_000196.4
p.Q289*
c.865C>T
1 paper
NM_000196.4
p.Q293*
c.877C>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."