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.L13I

c.37C>A

Surrounding Variants

1 paper

NM_000475.5

p.N15S

c.44A>G

1 paper

NM_000475.5

p.M18R

c.53T>G

4 papers

NM_000475.5

p.H6delFs

c.18delG

1 paper

NM_000475.5

p.Q7insFs

c.19_20insA

1 paper

NM_000475.5

p.S19R

c.55A>C

1 paper

NM_000475.5

p.H6insFs

c.17dupA

1 paper

NM_000475.5

p.S19R

c.57C>G

1 paper

NM_000475.5

p.S19R

c.57C>A

1 paper

NM_000475.5

p.H6Fs

c.17delinsTGFs

1 paper

NM_000475.5

p.H6N

c.16C>A

2 papers

NM_000475.5

p.Q22*

c.64C>T

1 paper

NM_000475.5

p.G3delFs

c.8delC