Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2
Variant:p.R57W

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
5 papers
NM_021969.3
p.R57W
c.169C>T
Surrounding Variants
10 papers
NM_021969.3
p.R57R
c.171G>A
5 papers
NM_021969.3
p.H53_C56delFs
c.157_166del10
1 paper
NM_021969.3
p.T55I
c.164C>T
1 paper
NM_021969.3
p.A59T
c.175G>A
1 paper
NM_021969.3
p.T55A
c.163A>G
1 paper
NM_021969.3
p.R54L
c.161G>T
2 papers
NM_021969.3
p.R54C
c.160C>T
2 papers
NM_021969.3
p.H53fs
c.157_158fs
1 paper
NM_021969.3
p.P52insFs
c.155_156insCT
1 paper
NM_021969.3
p.H53fs
c.157_158fs
6 papers
NM_021969.3
p.D61Y
c.181G>T
2 papers
NM_021969.3
p.D61H
c.181G>C
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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."