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.R75_L80insFs

c.224_240dup17

Surrounding Variants

1 paper

NM_000475.5

p.L80delFs

c.239delA

3 papers

NM_000475.5

p.Y81*

c.243C>G

3 papers

NM_000475.5

p.Y81*

c.243C>A

1 paper

NM_000475.5

p.L80_Y81delFs

c.239_242del4

1 paper

NM_000475.5

p.L80V

c.238C>G

1 paper

NM_000475.5

p.S82G

c.244A>G

1 paper

NM_000475.5

p.I79I

c.237C>T

1 paper

NM_000475.5

p.M83K

c.248T>A

1 paper

NM_000475.5

p.G77R

c.229G>C

1 paper

NM_000475.5

p.T85fs

c.253_254fs

1 paper

NM_000475.5

p.T85delFs

c.253_254delGT

1 paper

NM_000475.5

p.L84_T85Fs

c.252_255delinsACFs