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

1–12 of 345 variants

12 papers

NM_001668.4

p.V189V

c.567G>C

9 papers

NM_001668.4

p.D511N

c.1531G>A

9 papers

NM_001668.4

p.D517E

c.1551T>G

9 papers

NM_001668.4

p.D517E

c.1551T>A

6 papers

NM_001668.4

p.F446L

c.1336T>C

6 papers

NM_001668.4

p.F446L

c.1338C>G

6 papers

NM_001668.4

p.F446L

c.1338C>A

6 papers

NM_001668.4

p.P591L

c.1772C>T

5 papers

NM_001668.4

p.P706L

c.2117C>T

4 papers

NM_001668.4

p.P402A

c.1204C>G

4 papers

NM_001668.4

p.R430Q

c.1289G>A

3 papers

NM_001668.4

p.R61Splc

c.183-1G>A