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.C90S

c.268T>A

Surrounding Variants

1 paper

NM_134261.3

p.C90S

c.269G>C

1 paper

NM_134261.3

p.E91*

c.271G>T

1 paper

NM_134261.3

p.G92S

c.274G>A

3 papers

NM_134261.3

p.G92A

c.275G>C

1 paper

NM_134262.3

p.G31D

c.92G>A

1 paper

NM_134261.3

p.K94M

c.281A>T

1 paper

NM_134261.3

p.K94R

c.281A>G

1 paper

NM_134261.3

p.S81_G82del1

c.242_244delCTG

2 papers

NM_134260.3

p.C109R

c.325T>C

NM_134261.3

p.C76R

c.226T>C

1 paper

NM_002943.4

p.E94G

c.281A>G

1 paper

NM_134261.3

p.S66fs

c.196_197fs