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.S431fs

c.1291_1292fs

Surrounding Variants

2 papers

NM_000475.5

p.N430del1

c.1288_1289delATT

8 papers

NM_000475.5

p.S431delFs

c.1292delC

1 paper

NM_000475.5

p.N430_S431insG

c.1288_1292ins3

2 papers

NM_000475.5

p.E428*

c.1282G>T

1 paper

NM_000475.5

p.F434fs

c.1300_1301fs

1 paper

NM_000475.5

p.I427I

c.1281C>T

6 papers

NM_000475.5

p.F434delFs

c.1301delA

2 papers

NM_000475.5

p.I427V

c.1279A>G

2 papers

NM_000475.5

p.F426insFs

c.1277dupT

1 paper

NM_000475.5

p.F426C

c.1277T>G

1 paper

NM_000475.5

p.L435L

c.1305G>A

2 papers

NM_000475.5

p.R425S

c.1275A>T