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

14 papers

NM_000475.5

p.Q37*

c.109C>T

Surrounding Variants

1 paper

NM_000475.5

p.D36_Q37insFs

c.107_110dup4

1 paper

NM_000475.5

p.R33_V35delFs

c.98_104del7

3 papers

NM_000475.5

p.C38C

c.114C>T

1 paper

NM_000475.5

p.T32_C38delFs

c.94_113del20

1 paper

NM_000475.5

p.V35M

c.103G>A

11 papers

NM_000475.5

p.W39*

c.116G>A

11 papers

NM_000475.5

p.W39*

c.117G>A

1 paper

NM_000475.5

p.R33P

c.98G>C

2 papers

NM_000475.5

p.W39delFs

c.116delC

1 paper

NM_000475.5

p.T32M

c.95C>T

1 paper

NM_000475.5

p.S42fs

c.124_125fs

1 paper

NM_000475.5

p.T32fs

c.94_95fs