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.G713G

c.2139A>T

Surrounding Variants

1 paper

NM_001668.4

p.Q714H

c.2142A>T

1 paper

NM_001668.4

p.Q714H

c.2142A>C

1 paper

NM_001668.4

p.G709A

c.2126G>C

5 papers

NM_001668.4

p.P706L

c.2117C>T

1 paper

NM_001668.4

p.P706S

c.2116C>T

1 paper

NM_001668.4

p.V723M

c.2167G>A

1 paper

NM_001668.4

p.V725I

c.2173G>A

1 paper

NM_001668.4

p.G731insFs

c.2192dupG

1 paper

NM_001668.4

p.Q732fs

c.2194_2195fs

1 paper

NM_001668.4

p.H735Y

c.2203C>T

1 paper

NM_001668.4

p.R737C

c.2209C>T

1 paper

NM_001668.4

p.R737G

c.2209C>G