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

1 paper

NM_000475.5

p.G190R

c.568G>A

Surrounding Variants

1 paper

NM_000475.5

p.G190insFs

c.568_569ins4

1 paper

NM_000475.5

p.G190R

c.568G>C

1 paper

NM_000475.5

p.G190E

c.569G>A

1 paper

NM_000475.5

p.G189del1

c.565_566delGCC

1 paper

NM_000475.5

p.G189R

c.565G>C

1 paper

NM_000475.5

p.P188insFs

c.562_563ins4

1 paper

NM_000475.5

p.R191_A192insFs

c.572_575dup4

1 paper

NM_000475.5

p.E185_L187Fs

c.554_559delinsTGTGFs

1 paper

NM_000475.5

p.T193insFs

c.577_578insT

1 paper

NM_000475.5

p.T193R

c.578C>G

1 paper

NM_000475.5

p.A194V

c.581C>T

3 papers

NM_000475.5

p.L195Fs

c.585delinsCCFs