Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.S396delFs

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
1 paper
NM_000196.4
p.S396delFs
c.1186delA
Surrounding Variants
1 paper
NM_000196.4
p.P397delFs
c.1191delC
1 paper
NM_000196.4
p.N394D
c.1180A>G
1 paper
NM_000196.4
p.Q391_P397delFs
c.1172_1190del19
1 paper
NM_000196.4
p.D388D
c.1164C>T
1 paper
NM_000196.4
p.A404insFs
c.1210dupG
1 paper
NM_000196.4
p.Q387*
c.1159C>T
1 paper
NM_000196.4
p.P385delFs
c.1155delA
1 paper
NM_000196.4
p.P385delFs
c.1154delC
1 paper
NM_000196.4
p.P381insFs
c.1141_1142ins23
1 paper
NM_000196.4
p.P381delFs
c.1142delC
1 paper
NM_000196.4
p.Q380*
c.1138C>T
1 paper
NM_000196.4
p.G379V
c.1136G>T
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