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.V311_S312del2

c.931_935del6

Surrounding Variants

2 papers

NM_000475.5

p.S312delFs

c.935delG

1 paper

NM_000475.5

p.S312W

c.935C>G

1 paper

NM_000475.5

p.P314_S315insFs

c.942_943insAC

1 paper

NM_000475.5

p.S315insFs

c.944_945insCA

1 paper

NM_000475.5

p.S315T

c.944G>C

1 paper

NM_000475.5

p.E310K

c.928G>A

1 paper

NM_000475.5

p.L317fs

c.949_950fs

2 papers

NM_000475.5

p.V309G

c.926T>G

2 papers

NM_000475.5

p.Q318fs

c.952_953fs

1 paper

NM_000475.5

p.Q318*

c.952C>T

1 paper

NM_000475.5

p.K319M

c.956A>T

1 paper

NM_000475.5

p.K319R

c.956A>G