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

Selected Variant

1 paper

NM_006914.4

p.E96*

c.286G>T

Surrounding Variants

1 paper

NM_006914.4

p.Q98_K99ins11

c.292_296ins33

1 paper

NM_006914.4

p.E106V

c.317A>T

1 paper

NM_006914.4

p.A119insFs

c.357dupC

2 papers

NM_006914.4

p.N134S

c.401A>G

1 paper

NM_006914.4

p.V146I

c.436G>A

1 paper

NM_006914.4

p.N157N

c.471C>T

1 paper

NM_006914.4

p.Q162_P165delFs

c.486_495del10

1 paper

NM_006914.4

p.P163fs

c.487_488fs

1 paper

NM_006914.4

p.T173_K176delFs

c.519_528del10

1 paper

NM_006914.4

p.R77K

c.230G>A

1 paper

NM_006914.4

p.R77*

c.229A>T

2 papers

NM_006914.4

p.L73P

c.218T>C