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.P345fs

c.1033_1034fs

Surrounding Variants

2 papers

NM_000475.5

p.P345delFs

c.1034delG

1 paper

NM_000475.5

p.P346T

c.1036C>A

1 paper

NM_000475.5

p.A347T

c.1039G>A

1 paper

NM_000475.5

p.H342Y

c.1024C>T

1 paper

NM_000475.5

p.T338M

c.1013C>T

1 paper

NM_000475.5

p.P337delFs

c.1011delG

1 paper

NM_000475.5

p.V336fs

c.1006_1007fs

1 paper

NM_000475.5

p.P335delFs

c.1005delG

1 paper

NM_000475.5

p.S354delFs

c.1062delG

1 paper

NM_000475.5

p.A355fs

c.1063_1064fs

2 papers

NM_000475.5

p.P335fs

c.1003_1004fs

1 paper

NM_000475.5

p.L334insFs

c.1001_1002insC