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.S148R

c.442A>C

Surrounding Variants

1 paper

NM_000475.5

p.S148N

c.443G>A

1 paper

NM_000475.5

p.S148R

c.444C>G

1 paper

NM_000475.5

p.S148R

c.444C>A

1 paper

NM_000475.5

p.L150P

c.449T>C

1 paper

NM_000475.5

p.S144insFs

c.430_431insG

2 papers

NM_000475.5

p.G143delFs

c.428delC

1 paper

NM_000475.5

p.G143A

c.428G>C

1 paper

NM_000475.5

p.S153A

c.457T>G

1 paper

NM_000475.5

p.S153P

c.457T>C

4 papers

NM_000475.5

p.S153*

c.458C>G

4 papers

NM_000475.5

p.S153*

c.458C>A

1 paper

NM_000475.5

p.S153delFs

c.457delA