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

2 papers

NM_000475.5

p.Q420*

c.1258C>T

Surrounding Variants

1 paper

NM_000475.5

p.H419delFs

c.1256delT

1 paper

NM_000475.5

p.H419P

c.1256A>C

1 paper

NM_000475.5

p.H419fs

c.1255_1256fs

2 papers

NM_000475.5

p.T418M

c.1253C>T

3 papers

NM_000475.5

p.T418insFs

c.1252_1253ins4

1 paper

NM_000475.5

p.H419_G421del3

c.1255_1262del9

1 paper

NM_000475.5

p.M417insFs

c.1250_1251ins4

1 paper

NM_000475.5

p.M417T

c.1250T>C

1 paper

NM_000475.5

p.H423fs

c.1267_1268fs

1 paper

NM_000475.5

p.H423P

c.1268A>C

2 papers

NM_000475.5

p.H423insFs

c.1267_1268insCC

1 paper

NM_000475.5

p.H423delFs

c.1268delT