Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.F265F

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.F265F
c.795C>T
Surrounding Variants
1 paper
NM_000196.4
p.K266R
c.797A>G
7 papers
NM_000196.4
p.T267A
c.799A>G
1 paper
NM_000196.4
p.T267R
c.800C>G
1 paper
NM_000196.4
p.E268Splc
c.802+1G>A
1 paper
NM_000196.4
p.P262P
c.786T>C
1 paper
NM_000196.4
p.E268Splc
c.802+2T>G
1 paper
NM_000196.4
p.P262A
c.784C>G
8 papers
NM_000196.4
p.V257V
c.771C>G
1 paper
NM_000196.4
p.V257A
c.770T>C
1 paper
NM_000196.4
p.V257I
c.769G>A
2 papers
NM_000196.4
p.V257fs
c.769_770fs
1 paper
NM_000196.4
p.V255fs
c.763_764fs
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."