Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.P205L

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.P205L
c.614C>T
Surrounding Variants
1 paper
NM_000196.4
p.P205S
c.613C>T
1 paper
NM_000196.4
p.L204delFs
c.612delG
28 papers
NM_000196.4
p.R208C
c.622C>T
26 papers
NM_000196.4
p.R208H
c.623G>A
1 paper
NM_000196.4
p.K201_L204delFs
c.603_610del8
1 paper
NM_000196.4
p.S210_R211insAT
c.628_632ins6
1 paper
NM_000196.4
p.T200I
c.599C>T
1 paper
NM_000196.4
p.T200A
c.598A>G
1 paper
NM_000196.4
p.G212delFs
c.635delG
1 paper
NM_000196.4
p.T200delFs
c.598_599delAC
1 paper
NM_000196.4
p.G212D
c.635G>A
1 paper
NM_000196.4
p.L197L
c.591C>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."