Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2
Variant:p.I227T

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.I227T
c.680T>C
Surrounding Variants
1 paper
NM_021969.3
p.A221insFs
c.662dupC
1 paper
NM_021969.3
p.L218L
c.654C>T
2 papers
NM_021969.3
p.R238C
c.712C>T
5 papers
NM_021969.3
p.R216H
c.647G>A
1 paper
NM_021969.3
p.R216C
c.646C>T
1 paper
NM_021969.3
p.R216insFs
c.646_647insG
3 papers
NM_021969.3
p.R213H
c.638G>A
7 papers
NM_021969.3
p.R213C
c.637C>T
1 paper
NM_021969.3
p.V244insFs
c.730_731insT
2 papers
NM_021969.3
p.W206*
c.618G>A
2 papers
NM_021969.3
p.W206*
c.617G>A
1 paper
NM_021969.3
p.G248D
c.743G>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."