Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2
Variant:p.A195_H196insT

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.A195_H196insT
c.583_587ins3
Surrounding Variants
5 papers
NM_021969.3
p.A195S
c.583G>T
1 paper
NM_021969.3
p.Q192*
c.574C>T
1 paper
NM_021969.3
p.L199M
c.595C>A
6 papers
NM_021969.3
p.G189E
c.566G>A
1 paper
NM_021969.3
p.G189R
c.565G>C
2 papers
NM_021969.3
p.G189R
c.565G>A
1 paper
NM_021969.3
p.E204fs
c.610_611fs
1 paper
NM_021969.3
p.P205R
c.614C>G
2 papers
NM_021969.3
p.W206*
c.617G>A
2 papers
NM_021969.3
p.W206*
c.618G>A
1 paper
NM_021969.3
p.G181R
c.541G>C
1 paper
NM_021969.3
p.D178N
c.532G>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."