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.T462A

c.1384A>G

Surrounding Variants

1 paper

NM_001668.4

p.N463S

c.1388A>G

2 papers

NM_001668.4

p.I458insFs

c.1373_1374dupTC

1 paper

NM_001668.4

p.C459S

c.1376G>C

1 paper

NM_001668.4

p.C459S

c.1375T>A

2 papers

NM_001668.4

p.I458V

c.1372A>G

2 papers

NM_001668.4

p.I457V

c.1369A>G

1 paper

NM_001668.4

p.E453G

c.1358A>G

1 paper

NM_001668.4

p.D452N

c.1354G>A

1 paper

NM_001668.4

p.Y450C

c.1349A>G

6 papers

NM_001668.4

p.F446L

c.1338C>G

6 papers

NM_001668.4

p.F446L

c.1338C>A

6 papers

NM_001668.4

p.F446L

c.1336T>C