Varaico: Literature-Extracted Genetic Variants

Gene:RORB
Variant:p.G32delFs

RORB

86 papers

RefSeq Summary

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements up...

Pfam Domains

zf-C4aa 19–88UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 259–443UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

RAR related orphan receptor B

HGNC Alias Symbols

RZRB; NR1F2; ROR-BETA; RORβ; RZR-BETA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006914.4
p.G32delFs
c.94delG
Surrounding Variants
2 papers
NM_006914.4
p.K31_G32Splc
c.94-1G>A
1 paper
NM_006914.4
p.G32fs
c.94_95fs
1 paper
NM_006914.4
p.F33insFs
c.98_99ins11
1 paper
NM_006914.4
p.F34fs
c.100_101fs
2 papers
NM_006914.4
p.S37R
c.109A>C
2 papers
NM_006914.4
p.S37R
c.111C>A
2 papers
NM_006914.4
p.S37R
c.111C>G
1 paper
NM_006914.4
p.R50K
c.149G>A
1 paper
NM_006914.4
p.D55Y
c.163G>T
1 paper
NM_006914.4
p.T57M
c.170C>T
1 paper
NM_006914.4
p.N58Y
c.172A>T
4 papers
NM_006914.4
p.R66*
c.196C>T
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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."