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.S51T

c.152G>C

Surrounding Variants

1 paper

NM_000964.4

p.S51G

c.151A>G

1 paper

NM_000964.4

p.G52E

c.155G>A

1 paper

NM_000964.4

p.P49A

c.145C>G

1 paper

NM_000964.4

p.P49_P56del0

c.146_166del21

1 paper

NM_000964.4

p.S54T

c.161G>C

1 paper

NM_000964.4

p.L48H

c.143T>A

1 paper

NM_000964.4

p.Q47*

c.139C>T

1 paper

NM_000964.4

p.H46Q

c.138C>A

1 paper

NM_000964.4

p.H46Q

c.138C>G

4 papers

NM_000964.4

p.Q45H

c.135G>C

1 paper

NM_000964.4

p.S57S

c.171C>A

1 paper

NM_000964.4

p.Q45*

c.133C>T