Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.V217A

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.V217A
c.650T>C
Surrounding Variants
1 paper
NM_000196.4
p.S219R
c.655A>C
1 paper
NM_000196.4
p.V215A
c.644T>C
1 paper
NM_000196.4
p.S219R
c.657C>A
1 paper
NM_000196.4
p.S219R
c.657C>G
1 paper
NM_000196.4
p.I214T
c.641T>C
8 papers
NM_000196.4
p.A221G
c.662C>G
14 papers
NM_000196.4
p.A221V
c.662C>T
1 paper
NM_000196.4
p.R213H
c.638G>A
1 paper
NM_000196.4
p.R213P
c.638G>C
1 paper
NM_000196.4
p.R213S
c.637C>A
33 papers
NM_000196.4
p.R213C
c.637C>T
5 papers
NM_000196.4
p.G222Splc
c.664+1G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."