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.M190I

c.570G>T

Surrounding Variants

1 paper

NM_001206979.2

p.M190I

c.570G>A

1 paper

NM_001206979.2

p.M190I

c.570G>C

1 paper

NM_001206979.2

p.A194V

c.581C>T

1 paper

NM_001206979.2

p.E195K

c.583G>A

1 paper

NM_001206979.2

p.R185W

c.553A>T

1 paper

NM_001206993.2

p.Y208F

c.623A>T

2 papers

NM_001206979.2

p.R183*

c.547C>T

1 paper

NM_001206993.2

p.T209A

c.625A>G

1 paper

NM_001206979.2

p.R177K

c.530G>A

1 paper

NM_001206979.2

p.R177I

c.530G>T

2 papers

NM_001206979.2

p.R176Q

c.527G>A

12 papers

NM_001206979.2

p.R176*

c.526C>T