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.Y386H

c.1156T>C

Surrounding Variants

1 paper

NM_001668.4

p.G385R

c.1153G>C

1 paper

NM_001668.4

p.V384L

c.1150G>C

1 paper

NM_001668.4

p.C380S

c.1139G>C

1 paper

NM_001668.4

p.C380S

c.1138T>A

1 paper

NM_001668.4

p.R379C

c.1135C>T

1 paper

NM_001668.4

p.H378D

c.1132C>G

1 paper

NM_001668.4

p.D377insFs

c.1130_1131insG

2 papers

NM_001668.4

p.G371D

c.1112G>A

1 paper

NM_001668.4

p.E370Q

c.1108G>C

1 paper

NM_001668.4

p.I369T

c.1106T>C

2 papers

NM_001668.4

p.I364V

c.1090A>G

2 papers

NM_001668.4

p.F363L

c.1089C>G