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

18 papers

NM_001206979.2

p.M173T

c.518T>C

Surrounding Variants

1 paper

NM_001206979.2

p.M173V

c.517A>G

1 paper

NM_001206979.2

p.Y174H

c.520T>C

1 paper

NM_001206993.2

p.M185L

c.553A>C

1 paper

NM_001206993.2

p.M185L

c.553A>T

12 papers

NM_001206979.2

p.R176*

c.526C>T

2 papers

NM_001206979.2

p.R176Q

c.527G>A

1 paper

NM_001206979.2

p.R177K

c.530G>A

1 paper

NM_001206979.2

p.C169S

c.506G>C

1 paper

NM_001206979.2

p.R177I

c.530G>T

1 paper

NM_001206979.2

p.C169S

c.505T>A

1 paper

NM_001206979.2

p.N168N

c.504C>T

1 paper

NM_001206979.2

p.N168S

c.503A>G