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

2 papers

NM_000964.4

p.L409F

c.1225C>T

Surrounding Variants

1 paper

NM_000964.4

p.L409P

c.1226T>C

2 papers

NM_000964.4

p.L409R

c.1226T>G

1 paper

NM_000964.4

p.L409_M413delFs

c.1227_1239del13

2 papers

NM_000964.4

p.L409del1

c.1225_1226delCTC

1 paper

NM_000964.4

p.P408fs

c.1222_1223fs

1 paper

NM_000964.4

p.P407_P408insFs

c.1221_1222insC

1 paper

NM_000964.4

p.I410T

c.1229T>C

1 paper

NM_000964.4

p.P407Q

c.1220C>A

1 paper

NM_000964.4

p.P407S

c.1219C>T

1 paper

NM_000964.4

p.Q411*

c.1231C>T

2 papers

NM_000964.4

p.Q411R

c.1232A>G

1 paper

NM_000964.4

p.M406fs

c.1216_1217fs