Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2
Variant:p.P139H

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.P139H
c.416C>A
Surrounding Variants
1 paper
NM_021969.3
p.P139L
c.416C>T
1 paper
NM_021969.3
p.P139T
c.415C>A
1 paper
NM_021969.3
p.P141L
c.422C>T
2 papers
NM_021969.3
p.P141P
c.423C>T
1 paper
NM_021969.3
p.S142F
c.425C>T
2 papers
NM_021969.3
p.S142_L143delFs
c.424_427del4
1 paper
NM_021969.3
p.A144V
c.431C>T
1 paper
NM_021969.3
p.Q134*
c.400C>T
1 paper
NM_021969.3
p.S132R
c.396T>G
1 paper
NM_021969.3
p.S132I
c.395G>T
1 paper
NM_021969.3
p.Q147*
c.439C>T
1 paper
NM_021969.3
p.W148R
c.442T>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."