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.Q224*

c.670C>T

Surrounding Variants

2 papers

NM_000475.5

p.A226fs

c.676_677fs

2 papers

NM_000475.5

p.Q222*

c.664C>T

1 paper

NM_000475.5

p.A226V

c.677C>T

1 paper

NM_000475.5

p.A226delFs

c.676delC

1 paper

NM_000475.5

p.E228Q

c.682G>C

1 paper

NM_000475.5

p.E229*

c.685G>T

1 paper

NM_000475.5

p.L213_T218del6

c.637_653del18

3 papers

NM_000475.5

p.T218delFs

c.652_653delGT

1 paper

NM_000475.5

p.T218_S219ins4

c.652_656ins12

1 paper

NM_000475.5

p.P217delFs

c.651delG

1 paper

NM_000475.5

p.P217R

c.650C>G

1 paper

NM_000475.5

p.P231L

c.692C>T