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.D45delFs

c.134_135delAT

Surrounding Variants

1 paper

NM_000475.5

p.P47A

c.139C>G

1 paper

NM_000475.5

p.G48W

c.142G>T

1 paper

NM_000475.5

p.G44S

c.130G>A

1 paper

NM_000475.5

p.G48E

c.143G>A

1 paper

NM_000475.5

p.V49M

c.145G>A

1 paper

NM_000475.5

p.S42W

c.125C>G

1 paper

NM_000475.5

p.C41_S42delFs

c.123_124delAA

1 paper

NM_000475.5

p.S42fs

c.124_125fs

1 paper

NM_000475.5

p.R51K

c.152G>A

2 papers

NM_000475.5

p.W39delFs

c.116delC

2 papers

NM_000475.5

p.E52*

c.154G>T

11 papers

NM_000475.5

p.W39*

c.117G>A