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.V126M

c.376G>A

Surrounding Variants

1 paper

NM_000475.5

p.P125_V126insFs

c.375_376ins4

1 paper

NM_000475.5

p.P125L

c.374C>T

1 paper

NM_000475.5

p.A127P

c.379G>C

1 paper

NM_000475.5

p.A127T

c.379G>A

1 paper

NM_000475.5

p.G123_R124del2

c.367_371del6

1 paper

NM_000475.5

p.R124Q

c.371G>A

1 paper

NM_000475.5

p.L128P

c.383T>C

1 paper

NM_000475.5

p.G123_R124insFs

c.369_370insC

1 paper

NM_000475.5

p.G123V

c.368G>T

4 papers

NM_000475.5

p.G123A

c.368G>C

1 paper

NM_000475.5

p.L128_L129insFs

c.384_385insA

1 paper

NM_000475.5

p.G123R

c.367G>A