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.A242S

c.724G>T

Surrounding Variants

1 paper

NM_000475.5

p.A242fs

c.724_725fs

1 paper

NM_000475.5

p.A242V

c.725C>T

1 paper

NM_000475.5

p.S239_A242del4

c.715_725del12

1 paper

NM_000475.5

p.S239del1

c.715_716delGGA

1 paper

NM_000475.5

p.R244L

c.731G>T

1 paper

NM_000475.5

p.S239A

c.715T>G

1 paper

NM_000475.5

p.P245S

c.733C>T

1 paper

NM_000475.5

p.R244delFs

c.731delC

1 paper

NM_000475.5

p.S240_P245delFs

c.720_733del14

1 paper

NM_000475.5

p.V246insFs

c.736dupG

3 papers

NM_000475.5

p.W236*

c.708G>A

3 papers

NM_000475.5

p.W236*

c.707G>A