Varaico: Literature-Extracted Genetic Variants

ARNT

366 papers

RefSeq Summary

This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor a...

Pfam Domains

HLHaa 90–143UCSCHelix-loop-helix DNA-binding domain

PASaa 163–270UCSCPAS fold

PAS_11aa 360–469UCSCPAS domain

Gene Aliases

HGNC Name

aryl hydrocarbon receptor nuclear translocator

HGNC Alias Symbols

HIF-1beta; ARNT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001668.4

p.P596L

c.1787C>T

Surrounding Variants

1 paper

NM_001668.4

p.R595fs

c.1783_1784fs

2 papers

NM_001668.4

p.R595delFs

c.1783delG

1 paper

NM_001668.4

p.A597delFs

c.1789delC

1 paper

NM_001668.4

p.A597fs

c.1789_1790fs

6 papers

NM_001668.4

p.P591L

c.1772C>T

1 paper

NM_001668.4

p.Q586delFs

c.1756delG

1 paper

NM_001668.4

p.R601Splc

c.1802+16A>G

1 paper

NM_001668.4

p.Q582H

c.1746G>T

1 paper

NM_001668.4

p.Q582H

c.1746G>C

1 paper

NM_001668.4

p.Q581delFs

c.1741delG

1 paper

NM_001668.4

p.P578R

c.1733C>G

1 paper

NM_001668.4

p.Q568*

c.1702C>T