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

8 papers

NM_000475.5

p.Y91*

c.273C>A

Surrounding Variants

8 papers

NM_000475.5

p.Y91*

c.273C>G

1 paper

NM_000475.5

p.Y91_A92Fs

c.273_274delinsTFs

1 paper

NM_000475.5

p.T90insFs

c.269_270dupCG

1 paper

NM_000475.5

p.A93V

c.278C>T

1 paper

NM_000475.5

p.A93E

c.278C>A

1 paper

NM_000475.5

p.Q89*

c.265C>T

1 paper

NM_000475.5

p.K95delFs

c.284delT

1 paper

NM_000475.5

p.A96P

c.286G>C

1 paper

NM_000475.5

p.A87S

c.259G>T

1 paper

NM_000475.5

p.A87insFs

c.259_260ins4

1 paper

NM_000475.5

p.T85delFs

c.253_254delGT

1 paper

NM_000475.5

p.L84_T85Fs

c.252_255delinsACFs