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.Q434*

c.1300C>T

Surrounding Variants

1 paper

NM_001668.4

p.N433N

c.1299C>T

1 paper

NM_001668.4

p.E435K

c.1303G>A

1 paper

NM_001668.4

p.S431F

c.1292C>T

4 papers

NM_001668.4

p.R430Q

c.1289G>A

1 paper

NM_001668.4

p.F429L

c.1287C>G

1 paper

NM_001668.4

p.F429L

c.1287C>A

1 paper

NM_001668.4

p.F429L

c.1285T>C

1 paper

NM_001668.4

p.M439I

c.1317G>T

1 paper

NM_001668.4

p.M439I

c.1317G>C

1 paper

NM_001668.4

p.M439I

c.1317G>A

1 paper

NM_001668.4

p.M426K

c.1277T>A

1 paper

NM_001668.4

p.S424F

c.1271C>T