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.A292E

c.875C>A

Surrounding Variants

12 papers

NM_000475.5

p.W291C

c.873G>T

12 papers

NM_000475.5

p.W291C

c.873G>C

3 papers

NM_000475.5

p.W291*

c.873G>A

6 papers

NM_000475.5

p.W291S

c.872G>C

3 papers

NM_000475.5

p.W291*

c.872G>A

1 paper

NM_000475.5

p.W291G

c.871T>G

6 papers

NM_000475.5

p.W291R

c.871T>C

6 papers

NM_000475.5

p.W291R

c.871T>A

1 paper

NM_000475.5

p.C290*

c.870C>A

2 papers

NM_000475.5

p.L294P

c.881T>C

1 paper

NM_000475.5

p.L294Q

c.881T>A

10 papers

NM_000475.5

p.L295P

c.884T>C