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.K419N

c.1257A>C

Surrounding Variants

1 paper

NM_001668.4

p.K419N

c.1257A>T

1 paper

NM_001668.4

p.G420S

c.1258G>A

1 paper

NM_001668.4

p.L418*

c.1253T>G

1 paper

NM_001668.4

p.L418*

c.1253T>A

1 paper

NM_001668.4

p.K417R

c.1250A>G

1 paper

NM_001668.4

p.V416A

c.1247T>C

1 paper

NM_001668.4

p.V416E

c.1247T>A

1 paper

NM_001668.4

p.S424F

c.1271C>T

1 paper

NM_001668.4

p.Q414_V415Splc

c.1243-1G>T

1 paper

NM_001668.4

p.M426K

c.1277T>A

1 paper

NM_001668.4

p.F429L

c.1285T>C

1 paper

NM_001668.4

p.F429L

c.1287C>G