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.V216L

c.646G>C

Surrounding Variants

1 paper

NM_000475.5

p.V216L

c.646G>T

1 paper

NM_000475.5

p.V216M

c.646G>A

1 paper

NM_000475.5

p.C215*

c.645C>A

2 papers

NM_000475.5

p.Y214*

c.642C>G

1 paper

NM_000475.5

p.P217R

c.650C>G

2 papers

NM_000475.5

p.Y214*

c.642C>A

1 paper

NM_000475.5

p.T218_S219ins4

c.652_656ins12

1 paper

NM_000475.5

p.P217delFs

c.651delG

3 papers

NM_000475.5

p.L213delFs

c.637delG

1 paper

NM_000475.5

p.G210_L213delFs

c.630_637del8

3 papers

NM_000475.5

p.T218delFs

c.652_653delGT

1 paper

NM_000475.5

p.L213_T218del6

c.637_653del18