Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.L250P

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
24 papers
NM_000196.4
p.L250P
c.749T>C
Surrounding Variants
19 papers
NM_000196.4
p.L250R
c.749T>G
6 papers
NM_000196.4
p.L251P
c.752T>C
1 paper
NM_000196.4
p.E249K
c.745G>A
2 papers
NM_000196.4
p.V255insFs
c.763dupG
1 paper
NM_000196.4
p.V255delFs
c.763delG
1 paper
NM_000196.4
p.W253S
c.758G>C
1 paper
NM_000196.4
p.W253C
c.759G>C
1 paper
NM_000196.4
p.W253C
c.759G>T
2 papers
NM_000196.4
p.F246L
c.738C>A
2 papers
NM_000196.4
p.F246L
c.738C>G
2 papers
NM_000196.4
p.G254E
c.761G>A
1 paper
NM_000196.4
p.G254G
c.762G>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."