Varaico: Literature-Extracted Genetic Variants

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

1–12 of 63 variants

4 papers

NM_006914.4

p.R66*

c.196C>T

4 papers

NM_006914.4

p.R214*

c.640C>T

4 papers

NM_006914.4

p.I388F

c.1162A>T

2 papers

NM_006914.4

p.Y22D

c.64T>G

2 papers

NM_006914.4

p.K31_G32Splc

c.94-1G>A

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

2 papers

NM_006914.4

p.Q68*

c.202C>T

2 papers

NM_006914.4

p.L73P

c.218T>C

2 papers

NM_006914.4

p.N134S

c.401A>G

2 papers

NM_006914.4

p.W259C

c.777G>C