Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.R374*

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
21 papers
NM_000196.4
p.R374*
c.1120C>T
Surrounding Variants
1 paper
NM_000196.4
p.R374Q
c.1121G>A
1 paper
NM_000196.4
p.A375T
c.1123G>A
12 papers
NM_000196.4
p.L376P
c.1127T>C
1 paper
NM_000196.4
p.Q377*
c.1129C>T
1 paper
NM_000196.4
p.G379V
c.1136G>T
1 paper
NM_000196.4
p.Q380*
c.1138C>T
1 paper
NM_000196.4
p.P381insFs
c.1141_1142ins23
1 paper
NM_000196.4
p.P381delFs
c.1142delC
3 papers
NM_000196.4
p.F367I
c.1099T>A
1 paper
NM_000196.4
p.F367fs
c.1099_1100fs
8 papers
NM_000196.4
p.F367del1
c.1099_1101delTTC
1 paper
NM_000196.4
p.P385delFs
c.1154delC
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