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.G329delFs

c.985delC

Surrounding Variants

1 paper

NM_000475.5

p.G330insFs

c.989dupG

3 papers

NM_000475.5

p.G329_G330Fs

c.987_988delinsAFs

1 paper

NM_000475.5

p.G329fs

c.985_986fs

1 paper

NM_000475.5

p.G329G

c.987G>A

1 paper

NM_000475.5

p.G329Fs

c.986_987delinsAFs

4 papers

NM_000475.5

p.G329E

c.986G>A

1 paper

NM_000475.5

p.T328T

c.984C>G

2 papers

NM_000475.5

p.P333_L334insFs

c.999_1000ins4

1 paper

NM_000475.5

p.E327V

c.980A>T

1 paper

NM_000475.5

p.L334insFs

c.1001_1002insC

1 paper

NM_000475.5

p.P333_L334insFs

c.999_1000dupAC

1 paper

NM_000475.5

p.E327K

c.979G>A