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

4 papers

NM_000964.4

p.Q45H

c.135G>C

Surrounding Variants

1 paper

NM_000964.4

p.Q45*

c.133C>T

1 paper

NM_000964.4

p.H46Q

c.138C>A

1 paper

NM_000964.4

p.H46Q

c.138C>G

1 paper

NM_000964.4

p.Q45_L48del0

c.133_144del12

1 paper

NM_000964.4

p.Q47*

c.139C>T

1 paper

NM_000964.4

p.L44_Y53del0

c.132_158del27

2 papers

NM_000964.4

p.T43S

c.128C>G

1 paper

NM_000964.4

p.T43_H46delins

c.128_137delinsC

1 paper

NM_000964.4

p.T43A

c.127A>G

2 papers

NM_000964.4

p.T43S

c.127A>T

1 paper

NM_000964.4

p.L48H

c.143T>A

1 paper

NM_000964.4

p.P49_P56del0

c.146_166del21