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.S190P

c.568T>C

Surrounding Variants

12 papers

NM_001668.4

p.V189V

c.567G>C

1 paper

NM_001668.4

p.V189V

c.567G>A

1 paper

NM_001668.4

p.V189ins2

c.565_566ins6

1 paper

NM_001668.4

p.V189insFs

c.565_566ins5

1 paper

NM_001668.4

p.D191N

c.571G>A

1 paper

NM_001668.4

p.Y188insFs

c.563_564insT

1 paper

NM_001668.4

p.Y188insFs

c.563_564ins5

1 paper

NM_001668.4

p.Y188insFs

c.563_564insTG

1 paper

NM_001668.4

p.Y188ins2

c.563_564ins6

1 paper

NM_001668.4

p.Y188insFs

c.563_564ins8

1 paper

NM_001668.4

p.V187V

c.561G>C

1 paper

NM_001668.4

p.V193M

c.577G>A