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

7 papers

NM_000475.5

p.L297P

c.890T>C

Surrounding Variants

1 paper

NM_000475.5

p.M296delFs

c.888delC

1 paper

NM_000475.5

p.L299R

c.896T>G

10 papers

NM_000475.5

p.L295P

c.884T>C

1 paper

NM_000475.5

p.L299P

c.896T>C

1 paper

NM_000475.5

p.L295H

c.884T>A

1 paper

NM_000475.5

p.L299insFs

c.895_896dupCT

10 papers

NM_000475.5

p.A300P

c.898G>C

2 papers

NM_000475.5

p.L294P

c.881T>C

1 paper

NM_000475.5

p.L294Q

c.881T>A

18 papers

NM_000475.5

p.A300V

c.899C>T

1 paper

NM_000475.5

p.Q301*

c.901C>T

2 papers

NM_000475.5

p.A292E

c.875C>A