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.P440insFs

c.1319dupC

Surrounding Variants

2 papers

NM_000964.4

p.P440delFs

c.1319delC

1 paper

NM_000964.4

p.P439S

c.1315C>T

2 papers

NM_000964.4

p.P440fs

c.1318_1319fs

1 paper

NM_000964.4

p.P440fs

c.1318_1319fs

1 paper

NM_000964.4

p.P440L

c.1319C>T

1 paper

NM_000964.4

p.G434V

c.1301G>T

1 paper

NM_000964.4

p.D433E

c.1299C>A

1 paper

NM_000964.4

p.D433E

c.1299C>G

1 paper

NM_000964.4

p.D433A

c.1298A>C

1 paper

NM_000964.4

p.R432G

c.1294C>G

1 paper

NM_000964.4

p.G429G

c.1287T>G

2 papers

NM_000964.4

p.G431delFs

c.1292delG