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

3 papers

NM_000475.5

p.Q282*

c.844C>T

Surrounding Variants

2 papers

NM_000475.5

p.D281N

c.841G>A

1 paper

NM_000475.5

p.Q283fs

c.847_848fs

7 papers

NM_000475.5

p.Q283*

c.847C>T

1 paper

NM_000475.5

p.D281_Q282del2

c.841_845del6

3 papers

NM_000475.5

p.L280delFs

c.839delA

2 papers

NM_000475.5

p.Q283P

c.848A>C

3 papers

NM_000475.5

p.L280R

c.839T>G

1 paper

NM_000475.5

p.Q283Fs

c.849delinsCCFs

2 papers

NM_000475.5

p.Q283delins

c.848_849delinsCC

2 papers

NM_000475.5

p.L284R

c.851T>G

5 papers

NM_000475.5

p.P279L

c.836C>T

1 paper

NM_000475.5

p.L278_P279ins0

c.833_835dupTGC