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

1–12 of 142 variants

18 papers

NM_001206979.2

p.M173T

c.518T>C

12 papers

NM_001206979.2

p.R176*

c.526C>T

11 papers

NM_001206979.2

p.M1V

c.1A>G

9 papers

NM_001206979.2

p.W80R

c.238T>A

9 papers

NM_001206979.2

p.W80R

c.238T>C

3 papers

NM_001206979.2

p.N140ins1

c.419_420insAAA

2 papers

NM_001206979.2

p.T30A

c.88A>G

2 papers

NM_001206979.2

p.K157R

c.470A>G

2 papers

NM_001206979.2

p.R176Q

c.527G>A

2 papers

NM_001206979.2

p.R183*

c.547C>T

2 papers

NM_001206979.2

p.T296I

c.887C>T

2 papers

NM_001206979.2

p.E304insFs

c.911dupA