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

1–12 of 578 variants

32 papers

NM_000475.5

p.R267P

c.800G>C

29 papers

NM_000475.5

p.I439S

c.1316T>G

21 papers

NM_000475.5

p.Y380D

c.1138T>G

21 papers

NM_000475.5

p.N440I

c.1319A>T

18 papers

NM_000475.5

p.A300V

c.899C>T

15 papers

NM_000475.5

p.L278P

c.833T>C

15 papers

NM_000475.5

p.R425G

c.1273A>G

14 papers

NM_000475.5

p.Q37*

c.109C>T

14 papers

NM_000475.5

p.W171*

c.512G>A

14 papers

NM_000475.5

p.W171*

c.513G>A

14 papers

NM_000475.5

p.L466R

c.1397T>G

13 papers

NM_000475.5

p.Q395*

c.1183C>T