Varaico: Literature-Extracted Genetic Variants

RARA

579 papers

RefSeq Summary

This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulat...

Pfam Domains

zf-C4aa 86–155UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 222–401UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

retinoic acid receptor alpha

HGNC Alias Symbols

RAR; NR1B1; RARalpha; RAR-alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000964.4

p.D288Y

c.862G>T

Surrounding Variants

1 paper

NM_000964.4

p.D288A

c.863A>C

1 paper

NM_000964.4

p.S287S

c.861G>T

7 papers

NM_000964.4

p.S287L

c.860C>T

7 papers

NM_000964.4

p.G289R

c.865G>A

7 papers

NM_000964.4

p.G289R

c.865G>C

1 paper

NM_000964.4

p.S287fs

c.859_860fs

2 papers

NM_000964.4

p.F286S

c.857T>C

2 papers

NM_000964.4

p.L290V

c.868C>G

3 papers

NM_000964.4

p.T285I

c.854C>T

3 papers

NM_000964.4

p.F286del1

c.856_857delTTC

2 papers

NM_000964.4

p.T291A

c.871A>G

1 paper

NM_000964.4

p.T285A

c.853A>G