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.V60L

c.178G>T

Surrounding Variants

1 paper

NM_000475.5

p.V60L

c.178G>C

1 paper

NM_000475.5

p.R58R

c.174G>C

1 paper

NM_000475.5

p.R58P

c.173G>C

1 paper

NM_000475.5

p.G57ins3

c.170_171ins9

1 paper

NM_000475.5

p.L62L

c.186C>T

1 paper

NM_000475.5

p.G57R

c.169G>A

1 paper

NM_000475.5

p.L63delFs

c.189delC

1 paper

NM_000475.5

p.Y64fs

c.190_191fs

1 paper

NM_000475.5

p.L55delFs

c.163delG

2 papers

NM_000475.5

p.Y64*

c.192C>G

3 papers

NM_000475.5

p.Y64*

c.192C>A

1 paper

NM_000475.5

p.E52_L54delFs

c.156_160del5