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

4 papers

NM_001668.4

p.P402A

c.1204C>G

Surrounding Variants

1 paper

NM_001668.4

p.C400S

c.1199G>C

1 paper

NM_001668.4

p.C400S

c.1198T>A

1 paper

NM_001668.4

p.D404N

c.1210G>A

1 paper

NM_001668.4

p.F399C

c.1196T>G

1 paper

NM_001668.4

p.E398Q

c.1192G>C

2 papers

NM_001668.4

p.I396V

c.1186A>G

1 paper

NM_001668.4

p.R409I

c.1226G>T

1 paper

NM_001668.4

p.D410V

c.1229A>T

1 paper

NM_001668.4

p.G393A

c.1178G>C

1 paper

NM_001668.4

p.Q389_E390Splc

c.1168-19T>G

1 paper

NM_001668.4

p.Q414_V415Splc

c.1242+69A>T

1 paper

NM_001668.4

p.Y386H

c.1156T>C