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.D546H

c.1636G>C

Surrounding Variants

1 paper

NM_001668.4

p.E543Q

c.1627G>C

1 paper

NM_001668.4

p.S539T

c.1616G>C

1 paper

NM_001668.4

p.D554N

c.1660G>A

1 paper

NM_001668.4

p.E537*

c.1609G>T

1 paper

NM_001668.4

p.T534I

c.1601C>T

1 paper

NM_001668.4

p.V528A

c.1583T>C

1 paper

NM_001668.4

p.N565K

c.1695T>G

1 paper

NM_001668.4

p.A566V

c.1697C>T

1 paper

NM_001668.4

p.Q526*

c.1576C>T

9 papers

NM_001668.4

p.D517E

c.1551T>G

9 papers

NM_001668.4

p.D517E

c.1551T>A

1 paper

NM_001668.4

p.P514L

c.1541C>T