Varaico: Literature-Extracted Genetic Variants

ARNT2

95 papers

RefSeq Summary

This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS...

Pfam Domains

HLHaa 64–117UCSCHelix-loop-helix DNA-binding domain

PASaa 137–244UCSCPAS fold

PAS_11aa 334–442UCSCPAS domain

Gene Aliases

HGNC Name

aryl hydrocarbon receptor nuclear translocator 2

HGNC Alias Symbols

KIAA0307; bHLHe1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 140 variants

3 papers

NM_014862.4

p.G49Splc

c.147-1G>A

3 papers

NM_014862.4

p.P130A

c.388C>G

3 papers

NM_014862.4

p.W410R

c.1228T>A

3 papers

NM_014862.4

p.W410R

c.1228T>C

3 papers

NM_014862.4

p.Q569H

c.1707G>C

3 papers

NM_014862.4

p.Q569H

c.1707G>T

2 papers

NM_014862.4

p.A28V

c.83C>T

2 papers

NM_014862.4

p.P130S

c.388C>T

2 papers

NM_014862.4

p.D327N

c.979G>A

2 papers

NM_014862.4

p.S458insFs

c.1372_1373dupTC

2 papers

NM_014862.4

p.Y459fs

c.1375_1376fs

2 papers

NM_014862.4

p.G679S

c.2035G>A