Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B1
Variant:p.L251P

HSD11B1

89 papers

RefSeq Summary

The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze...

Pfam Domains

adh_shortaa 35–230UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 11-beta dehydrogenase 1

HGNC Previous Symbol

HSD11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005525.4
p.L251P
c.752T>C
Surrounding Variants
1 paper
NM_005525.4
p.R252C
c.754C>T
1 paper
NM_005525.4
p.R252H
c.755G>A
1 paper
NM_005525.4
p.G248G
c.744G>C
1 paper
NM_005525.4
p.G248R
c.742G>A
1 paper
NM_005525.4
p.G248R
c.742G>C
1 paper
NM_005525.4
p.V256V
c.768G>A
1 paper
NM_005525.4
p.E244E
c.732G>A
1 paper
NM_005525.4
p.E244K
c.730G>A
1 paper
NM_005525.4
p.C241Y
c.722G>A
1 paper
NM_005525.4
p.E239K
c.715G>A
1 paper
NM_005525.4
p.L266F
c.796C>T
1 paper
NM_005525.4
p.L267L
c.801G>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."