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

2 papers

NM_001206979.2

p.E304insFs

c.911dupA

Surrounding Variants

1 paper

NM_001206979.2

p.F305I

c.913T>A

1 paper

NM_001206979.2

p.K307N

c.921A>C

1 paper

NM_001206979.2

p.K307N

c.921A>T

1 paper

NM_001206979.2

p.Q300*

c.898C>T

1 paper

NM_001206979.2

p.K308N

c.924G>C

1 paper

NM_001206979.2

p.N297S

c.890A>G

2 papers

NM_001206979.2

p.T296I

c.887C>T

1 paper

NM_005123.4

p.Q263*

c.787C>T

1 paper

NM_005123.4

p.N261N

c.783C>T

1 paper

NM_001206979.2

p.S263*

c.788C>A

1 paper

NM_001206979.2

p.S263*

c.788C>G

1 paper

NM_001206979.2

p.L256L

c.768T>C