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.F449delFs

c.1346delA

Surrounding Variants

1 paper

NM_000475.5

p.R450W

c.1348A>T

1 paper

NM_000475.5

p.F448S

c.1343T>C

1 paper

NM_000475.5

p.I452fs

c.1354_1355fs

1 paper

NM_000475.5

p.I452delFs

c.1355delA

2 papers

NM_000475.5

p.N442delFs

c.1326delA

1 paper

NM_000475.5

p.N442K

c.1326T>G

1 paper

NM_000475.5

p.N442K

c.1326T>A

21 papers

NM_000475.5

p.N440I

c.1319A>T

1 paper

NM_000475.5

p.D459G

c.1376A>G

1 paper

NM_000475.5

p.D459Fs

c.1376_1377delinsGFs

29 papers

NM_000475.5

p.I439S

c.1316T>G

1 paper

NM_000475.5

p.I439F

c.1315A>T