Varaico: Literature-Extracted Genetic Variants

NR1H4

154 papers

RefSeq Summary

This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, a...

Pfam Domains

zf-C4aa 135–204UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 288–471UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 1 group H member 4

HGNC Alias Symbols

RIP14; HRR1; HRR-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001206979.2

p.N140ins1

c.419_420insAAA

Surrounding Variants

1 paper

NM_001206979.2

p.N140_A141ins1

c.420_421insAAA

1 paper

NM_001206979.2

p.T143S

c.427A>T

1 paper

NM_001206979.2

p.T143S

c.428C>G

1 paper

NM_001206979.2

p.T143I

c.428C>T

1 paper

NM_001206993.2

p.S145F

c.434C>T

1 paper

NM_001206979.2

p.C144R

c.430T>C

1 paper

NM_001206979.2

p.R133insFs

c.399dupA

1 paper

NM_001206979.2

p.G149S

c.445G>A

1 paper

NM_001206979.2

p.G149C

c.445G>T

1 paper

NM_001206979.2

p.D124A

c.371A>C

1 paper

NM_001206979.2

p.D124N

c.370G>A

1 paper

NM_001206979.2

p.K122R

c.365A>G