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

1 paper

NM_001206979.2

p.F150L

c.450C>A

Surrounding Variants

1 paper

NM_001206979.2

p.F150L

c.450C>G

1 paper

NM_001206979.2

p.F150L

c.448T>C

1 paper

NM_001206979.2

p.G149G

c.447T>A

1 paper

NM_001206979.2

p.G149_F150insFs

c.447_448insA

1 paper

NM_001206979.2

p.R153T

c.458G>C

1 paper

NM_001206979.2

p.R153I

c.458G>T

1 paper

NM_001206979.2

p.R153S

c.459A>C

1 paper

NM_001206979.2

p.R153S

c.459A>T

2 papers

NM_001206979.2

p.K157R

c.470A>G

1 paper

NM_001206979.2

p.K162M

c.485A>T

1 paper

NM_001206979.2

p.N165D

c.493A>G

1 paper

NM_001206979.2

p.N168S

c.503A>G