Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.G222Splc

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.G222Splc
c.665-1G>A
Surrounding Variants
1 paper
NM_000196.4
p.D223delFs
c.667delG
10 papers
NM_000196.4
p.D223N
c.667G>A
1 paper
NM_000196.4
p.G222Splc
c.665-7T>G
1 paper
NM_000196.4
p.P225P
c.675A>G
12 papers
NM_000196.4
p.Y226N
c.676T>A
1 paper
NM_000196.4
p.Y226D
c.676T>G
27 papers
NM_000196.4
p.P227L
c.680C>T
1 paper
NM_000196.4
p.C228_A231del4
c.682_692del12
1 paper
NM_000196.4
p.A231P
c.691G>C
1 paper
NM_000196.4
p.Y232_S235del0
c.695_703del9
2 papers
NM_000196.4
p.Y232S
c.695A>C
11 papers
NM_000196.4
p.Y232C
c.695A>G
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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."