Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.L363P

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
6 papers
NM_000196.4
p.L363P
c.1088T>C
Surrounding Variants
1 paper
NM_000196.4
p.Q364_G379delFs
c.1090_1135del46
8 papers
NM_000196.4
p.F367del1
c.1099_1101delTTC
1 paper
NM_000196.4
p.R361insFs
c.1081_1082insT
3 papers
NM_000196.4
p.F367I
c.1099T>A
1 paper
NM_000196.4
p.F367fs
c.1099_1100fs
1 paper
NM_000196.4
p.R359insFs
c.1075_1076insA
15 papers
NM_000196.4
p.R359W
c.1075C>T
1 paper
NM_000196.4
p.L358P
c.1073T>C
4 papers
NM_000196.4
p.E356fs
c.1066_1067fs
1 paper
NM_000196.4
p.Y353H
c.1057T>C
21 papers
NM_000196.4
p.R374*
c.1120C>T
1 paper
NM_000196.4
p.R374Q
c.1121G>A
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