Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.L318P

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.L318P
c.953T>C
Surrounding Variants
1 paper
NM_000196.4
p.L318H
c.953T>A
1 paper
NM_000196.4
p.L318delFs
c.953_954delTC
1 paper
NM_000196.4
p.D317H
c.949G>C
1 paper
NM_000196.4
p.D317_I325del9
c.949_974del27
1 paper
NM_000196.4
p.H309N
c.925C>A
28 papers
NM_000196.4
p.A328V
c.983C>T
1 paper
NM_000196.4
p.A331V
c.992C>T
3 papers
NM_000196.4
p.G305fs
c.913_914fs
2 papers
NM_000196.4
p.H304R
c.911A>G
3 papers
NM_000196.4
p.R335H
c.1004G>A
5 papers
NM_000196.4
p.E301fs
c.901_902fs
1 paper
NM_000196.4
p.R336H
c.1007G>A
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