Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.Y232S

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
2 papers
NM_000196.4
p.Y232S
c.695A>C
Surrounding Variants
11 papers
NM_000196.4
p.Y232C
c.695A>G
1 paper
NM_000196.4
p.Y232F
c.695A>T
1 paper
NM_000196.4
p.A231P
c.691G>C
1 paper
NM_000196.4
p.Y232_S235del0
c.695_703del9
1 paper
NM_000196.4
p.S235_M243del9
c.703_728del27
1 paper
NM_000196.4
p.S235C
c.704C>G
1 paper
NM_000196.4
p.K236R
c.707A>G
1 paper
NM_000196.4
p.C228_A231del4
c.682_692del12
27 papers
NM_000196.4
p.P227L
c.680C>T
18 papers
NM_000196.4
p.A237V
c.710C>T
1 paper
NM_000196.4
p.A238V
c.713C>T
12 papers
NM_000196.4
p.Y226N
c.676T>A
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