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.G71R

c.211G>C

Surrounding Variants

1 paper

NM_001206979.2

p.G71A

c.212G>C

1 paper

NM_001206979.2

p.F72F

c.216C>T

1 paper

NM_001206979.2

p.Y66C

c.197A>G

1 paper

NM_001206979.2

p.Q76R

c.227A>G

1 paper

NM_001206979.2

p.S65A

c.193T>G

1 paper

NM_001206979.2

p.S63S

c.189G>A

9 papers

NM_001206979.2

p.W80R

c.238T>A

9 papers

NM_001206979.2

p.W80R

c.238T>C

1 paper

NM_001206979.2

p.I61V

c.181A>G

1 paper

NM_001206979.2

p.P83A

c.247C>G

1 paper

NM_001206979.2

p.Q56K

c.166C>A

1 paper

NM_001206979.2

p.M91K

c.272T>A