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.S449insFs

c.1346_1347insA

Surrounding Variants

1 paper

NM_000964.4

p.S447R

c.1339A>C

1 paper

NM_000964.4

p.S452A

c.1354T>G

1 paper

NM_000964.4

p.S452_N453insFs

c.1356_1357ins4

1 paper

NM_000964.4

p.S456G

c.1366A>G

1 paper

NM_000964.4

p.A458T

c.1372G>A

1 paper

NM_000964.4

p.P440L

c.1319C>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.T459delins

c.1376_1377delinsTT

1 paper

NM_000964.4

p.P439S

c.1315C>T

1 paper

NM_000964.4

p.P440insFs

c.1319dupC

2 papers

NM_000964.4

p.P440delFs

c.1319delC