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

Selected Variant

1 paper

NM_014862.4

p.S111T

c.331T>A

Surrounding Variants

1 paper

NM_014862.4

p.H112Y

c.334C>T

1 paper

NM_014862.4

p.V110I

c.328G>A

1 paper

NM_014862.4

p.A109A

c.327C>T

1 paper

NM_014862.4

p.H112H

c.336C>T

1 paper

NM_014862.4

p.R107H

c.320G>A

1 paper

NM_014862.4

p.I105V

c.313A>G

1 paper

NM_014862.4

p.K102_L103insFs

c.306_307insAG

1 paper

NM_014862.4

p.G126G

c.378C>T

1 paper

NM_014862.4

p.A127T

c.379G>A

3 papers

NM_014862.4

p.P130A

c.388C>G

2 papers

NM_014862.4

p.P130S

c.388C>T

1 paper

NM_014862.4

p.D88G

c.263A>G