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.Y399C

c.1196A>G

Surrounding Variants

9 papers

NM_000475.5

p.Y399*

c.1197C>G

9 papers

NM_000475.5

p.Y399*

c.1197C>A

2 papers

NM_000475.5

p.G402*

c.1204G>T

1 paper

NM_000475.5

p.C396*

c.1188C>A

13 papers

NM_000475.5

p.Q395*

c.1183C>T

1 paper

NM_000475.5

p.Q395K

c.1183C>A

5 papers

NM_000475.5

p.Q404*

c.1210C>T

1 paper

NM_000475.5

p.L394R

c.1181T>G

1 paper

NM_000475.5

p.L394P

c.1181T>C

1 paper

NM_000475.5

p.G393_L394delFs

c.1177_1180del4

1 paper

NM_000475.5

p.L403delFs

c.1209delG

1 paper

NM_000475.5

p.W405*

c.1214G>A