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.E18K

c.52G>A

Surrounding Variants

1 paper

NM_001206979.2

p.T16A

c.46A>G

1 paper

NM_001206979.2

p.T15A

c.43A>G

1 paper

NM_001206979.2

p.E23delFs

c.68delA

1 paper

NM_001206979.2

p.H10Q

c.30T>A

1 paper

NM_001206979.2

p.E9*

c.25G>T

1 paper

NM_001206979.2

p.I8I

c.24T>C

1 paper

NM_001206979.2

p.M5I

c.15G>A

1 paper

NM_001206979.2

p.M5V

c.13A>G

1 paper

NM_001206979.2

p.K4R

c.11A>G

1 paper

NM_001206979.2

p.K4*

c.10A>T

1 paper

NM_001206979.2

p.M1I

c.3G>A

11 papers

NM_001206979.2

p.M1V

c.1A>G