Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2

NR0B2

316 papers

RefSeq Summary

The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear h...

Pfam Domains

Hormone_recepaa 50–238UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 0 group B member 2

HGNC Alias Symbol

SHP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
13 papers
NM_021969.3
p.D61G
c.182A>G
13 papers
NM_021969.3
p.G171A
c.512G>C
10 papers
NM_021969.3
p.R34*
c.100C>T
10 papers
NM_021969.3
p.R57R
c.171G>A
8 papers
NM_021969.3
p.D61N
c.181G>A
7 papers
NM_021969.3
p.D61A
c.182A>C
7 papers
NM_021969.3
p.R213C
c.637C>T
6 papers
NM_021969.3
p.D61Y
c.181G>T
6 papers
NM_021969.3
p.G189E
c.566G>A
5 papers
NM_021969.3
p.H53_C56delFs
c.157_166del10
5 papers
NM_021969.3
p.R57W
c.169C>T
5 papers
NM_021969.3
p.G93D
c.278G>A
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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."