Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B1
Variant:p.C272S

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.C272S
c.815G>C
Surrounding Variants
2 papers
NM_005525.4
p.C272S
c.814T>A
1 paper
NM_005525.4
p.P271P
c.813A>C
1 paper
NM_005525.4
p.L267L
c.801G>A
1 paper
NM_005525.4
p.L266F
c.796C>T
1 paper
NM_005525.4
p.Y280S
c.839A>C
1 paper
NM_005525.4
p.Y280F
c.839A>T
1 paper
NM_005525.4
p.S281L
c.842C>T
1 paper
NM_005525.4
p.T282M
c.845C>T
1 paper
NM_005525.4
p.S283N
c.848G>A
1 paper
NM_005525.4
p.Y284C
c.851A>G
2 papers
NM_005525.4
p.M286I
c.858G>A
2 papers
NM_005525.4
p.M286I
c.858G>C
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."