Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B1
Variant:p.I197T

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
1 paper
NM_005525.4
p.I197T
c.590T>C
Surrounding Variants
1 paper
NM_005525.4
p.F193S
c.578T>C
1 paper
NM_005525.4
p.F193insFs
c.577_578insA
1 paper
NM_005525.4
p.R205R
c.615G>A
3 papers
NM_005525.4
p.K187N
c.561G>C
3 papers
NM_005525.4
p.K187N
c.561G>T
13 papers
NM_005525.4
p.S186insFs
c.557_558insA
1 paper
NM_005525.4
p.L212F
c.634C>T
1 paper
NM_005525.4
p.D219Y
c.655G>T
1 paper
NM_005525.4
p.A223A
c.669C>T
1 paper
NM_005525.4
p.A226T
c.676G>A
1 paper
NM_005525.4
p.V227fs
c.679_680fs
1 paper
NM_005525.4
p.I230T
c.689T>C
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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."