Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL

NSDHL

186 papers

RefSeq Summary

The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked d...

Pfam Domains

3Beta_HSDaa 41–297UCSC3-beta hydroxysteroid dehydrogenase/isomerase family

Gene Aliases

HGNC Name

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

HGNC Alias Symbols

XAP104; H105e3; SDR31E1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 161 variants
19 papers
NM_015922.3
p.A105V
c.314C>T
14 papers
NM_015922.3
p.G205S
c.613G>A
11 papers
NM_015922.3
p.R88*
c.262C>T
10 papers
NM_015922.3
p.Q210*
c.628C>T
8 papers
NM_015922.3
p.Y349C
c.1046A>G
6 papers
NM_015922.3
p.A182P
c.544G>C
5 papers
NM_015922.3
p.G44S
c.130G>A
5 papers
NM_015922.3
p.G124S
c.370G>A
5 papers
NM_015922.3
p.C132W
c.396C>G
5 papers
NM_015922.3
p.S147R
c.439A>C
5 papers
NM_015922.3
p.S147R
c.441T>A
5 papers
NM_015922.3
p.S147R
c.441T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."