Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B1
Variant:p.L109delFs

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.L109delFs
c.325delC
Surrounding Variants
1 paper
NM_005525.4
p.G91D
c.272G>A
1 paper
NM_005525.4
p.H87Q
c.261C>A
1 paper
NM_005525.4
p.H87Q
c.261C>G
1 paper
NM_005525.4
p.H87insFs
c.259_260insG
1 paper
NM_005525.4
p.A86T
c.256G>A
1 paper
NM_005525.4
p.H77R
c.230A>G
3 papers
NM_005525.4
p.G111Splc
c.332-29T>G
1 paper
NM_005525.4
p.T122N
c.365C>A
2 papers
NM_005525.4
p.D131G
c.392A>G
3 papers
NM_005525.4
p.R137C
c.409C>T
1 paper
NM_005525.4
p.E141D
c.423A>C
1 paper
NM_005525.4
p.E141D
c.423A>T
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