Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2
Variant:p.C39S

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
Selected Variant
1 paper
NM_021969.3
p.C39S
c.115T>A
Surrounding Variants
2 papers
NM_021969.3
p.R38H
c.113G>A
1 paper
NM_021969.3
p.R38C
c.112C>T
1 paper
NM_021969.3
p.R36H
c.107G>A
3 papers
NM_021969.3
p.R36C
c.106C>T
1 paper
NM_021969.3
p.R42G
c.124A>G
1 paper
NM_021969.3
p.R34Q
c.101G>A
10 papers
NM_021969.3
p.R34*
c.100C>T
4 papers
NM_021969.3
p.R34G
c.100C>G
1 paper
NM_021969.3
p.R45P
c.134G>C
1 paper
NM_021969.3
p.R45Q
c.134G>A
1 paper
NM_021969.3
p.A31insFs
c.92dupC
1 paper
NM_021969.3
p.L49R
c.146T>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."