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

3 papers

NM_014862.4

p.G49Splc

c.147-1G>A

Surrounding Variants

1 paper

NM_014862.4

p.G59D

c.176G>A

1 paper

NM_014862.4

p.P60H

c.179C>A

1 paper

NM_014862.4

p.G49Splc

c.146+531T>A

1 paper

NM_014862.4

p.R47C

c.139C>T

1 paper

NM_014862.4

p.R46W

c.136C>T

1 paper

NM_014862.4

p.G44R

c.130G>A

1 paper

NM_014862.4

p.G31R

c.91G>A

1 paper

NM_014862.4

p.G31R

c.91G>C

2 papers

NM_014862.4

p.A28V

c.83C>T

1 paper

NM_014862.4

p.P26S

c.76C>T

1 paper

NM_014862.4

p.A25T

c.73G>A

1 paper

NM_014862.4

p.D15N

c.43G>A