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.G169D

c.506G>A

Surrounding Variants

1 paper

NM_000475.5

p.G169A

c.506G>C

3 papers

NM_000475.5

p.G169fs

c.505_506fs

1 paper

NM_000475.5

p.A170_W171ins9

c.508_512ins27

1 paper

NM_000475.5

p.A170P

c.508G>C

1 paper

NM_000475.5

p.A170fs

c.508_509fs

9 papers

NM_000475.5

p.P167delFs

c.501delT

1 paper

NM_000475.5

p.P167_G168insFs

c.501_502insG

14 papers

NM_000475.5

p.W171*

c.512G>A

14 papers

NM_000475.5

p.W171*

c.513G>A

1 paper

NM_000475.5

p.P167S

c.499C>T

1 paper

NM_000475.5

p.R166delFs

c.498delC

11 papers

NM_000475.5

p.R166R

c.498G>A