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

3 papers

NM_001668.4

p.R61Splc

c.183-1G>A

Surrounding Variants

2 papers

NM_001668.4

p.R61Splc

c.183-2A>G

1 paper

NM_001668.4

p.C62W

c.186T>G

1 paper

NM_001668.4

p.C62C

c.186T>C

1 paper

NM_001668.4

p.D64H

c.190G>C

1 paper

NM_001668.4

p.D64N

c.190G>A

1 paper

NM_001668.4

p.Q66_M67insG

c.196_200ins3

1 paper

NM_001668.4

p.Q66L

c.197A>T

1 paper

NM_001668.4

p.D65_Q66del2

c.193_197del6

1 paper

NM_001668.4

p.S68A

c.202T>G

1 paper

NM_001668.4

p.E72G

c.215A>G

1 paper

NM_001668.4

p.E72A

c.215A>C

1 paper

NM_001668.4

p.A75T

c.223G>A