Varaico: Literature-Extracted Genetic Variants

RORA

117 papers

RefSeq Summary

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enh...

Pfam Domains

zf-C4aa 16–85UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 253–439UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

RAR related orphan receptor A

HGNC Alias Symbols

RZRA; ROR3; NR1F1; ROR-alpha; RORalpha; RORa1; RORα

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_134261.3

p.Y157H

c.469T>C

Surrounding Variants

1 paper

NM_134261.3

p.K150E

c.448A>G

1 paper

NM_134261.3

p.R147Fs

c.441delinsAAFs

1 paper

NM_134262.3

p.R92P

c.275G>C

2 papers

NM_134261.3

p.Q167*

c.499C>T

1 paper

NM_134261.3

p.F145_G146del2

c.433_437del6

2 papers

NM_134261.3

p.Q169*

c.505C>T

1 paper

NM_134261.3

p.A142_V143delFs

c.426_429del4

1 paper

NM_134261.3

p.A142Splc

c.425-1G>A

1 paper

NM_134261.3

p.Y186_S189del4

c.556_566del12

1 paper

NM_134261.3

p.T194_E195del1

c.581_583delCCG

1 paper

NM_134261.3

p.T194_E195del2

c.580_584del6

1 paper

NM_134261.3

p.E210D

c.630G>T