Varaico: Literature-Extracted Genetic Variants

NR0B1

471 papers

RefSeq Summary

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein...

Pfam Domains

NR_Repeataa 1–49UCSCNuclear receptor repeat

NR_Repeataa 68–115UCSCNuclear receptor repeat

NR_Repeataa 134–182UCSCNuclear receptor repeat

NR_Repeataa 201–246UCSCNuclear receptor repeat

Hormone_recepaa 249–453UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 0 group B member 1

HGNC Previous Symbols

AHC; DSS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000475.5

p.G182delFs

c.544delC

Surrounding Variants

1 paper

NM_000475.5

p.G183_K184insFs

c.549_550insG

1 paper

NM_000475.5

p.G183V

c.548G>T

1 paper

NM_000475.5

p.G183_K184insFs

c.549_550insT

1 paper

NM_000475.5

p.G183insFs

c.547_548ins4

2 papers

NM_000475.5

p.G183S

c.547G>A

1 paper

NM_000475.5

p.K184R

c.551A>G

2 papers

NM_000475.5

p.G182_G183insFs

c.546_547ins4

1 paper

NM_000475.5

p.P181insFs

c.543dupA

1 paper

NM_000475.5

p.G182fs

c.544_545fs

9 papers

NM_000475.5

p.P181delFs

c.543delT

1 paper

NM_000475.5

p.P181del1

c.541_543delTGG

1 paper

NM_000475.5

p.E185_L187Fs

c.554_559delinsTGTGFs