Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B1L
Variant:p.Y110insFs

HSD11B1L

12 papers

RefSeq Summary

This gene is a member of the hydroxysteroid dehydrogenase family. The encoded protein is similar to an enzyme that catalyzes the interconversion of inactive to active glucocorticoids (e.g. cortisone)....

Pfam Domains

adh_shortaa 30–222UCSCshort chain dehydrogenase
adh_shortaa 30–222UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 11-beta dehydrogenase 1 like

HGNC Alias Symbols

SCDR10; SDR26C2; HSD1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198706.3
p.Y110insFs
c.328_329insC
Surrounding Variants
1 paper
NM_198706.3
p.R124Q
c.371G>A
1 paper
NM_198706.3
p.V137I
c.409G>A
1 paper
NM_198706.3
p.V162G
c.485T>G
1 paper
NM_198706.3
p.V81G
c.242T>G
1 paper
NM_198706.3
p.V70V
c.210A>T
1 paper
NM_198706.3
p.R169L
c.506G>T
1 paper
NM_198706.3
p.P177S
c.529C>T
1 paper
NM_198706.3
p.A184E
c.551C>A
1 paper
NM_198706.3
p.G244R
c.730G>C
1 paper
NM_198706.3
p.S26Fs
c.76delinsTGFs
1 paper
NM_198706.3
p.A25fs
c.73_74fs
1 paper
NM_198706.3
p.M1V
c.1A>G
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