Varaico: Literature-Extracted Genetic Variants

Gene:RORB
Variant:p.E386fs

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.E386fs
c.1156_1157fs
Surrounding Variants
1 paper
NM_006914.4
p.E386insFs
c.1157dupA
4 papers
NM_006914.4
p.I388F
c.1162A>T
1 paper
NM_006914.4
p.Q397insFs
c.1190dupA
1 paper
NM_006914.4
p.N399Y
c.1195A>T
1 paper
NM_006914.4
p.R372*
c.1114C>T
1 paper
NM_006914.4
p.D402V
c.1205A>T
1 paper
NM_006914.4
p.S364F
c.1091C>T
1 paper
NM_006914.4
p.S364P
c.1090T>C
1 paper
NM_006914.4
p.L354L
c.1062G>T
1 paper
NM_006914.4
p.F330I
c.988T>A
1 paper
NM_006914.4
p.Y324C
c.971A>G
1 paper
NM_006914.4
p.R309H
c.926G>A
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