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.W410R

c.1228T>C

Surrounding Variants

3 papers

NM_014862.4

p.W410R

c.1228T>A

1 paper

NM_014862.4

p.W410*

c.1229G>A

1 paper

NM_014862.4

p.R408P

c.1223G>C

1 paper

NM_014862.4

p.R414C

c.1240C>T

1 paper

NM_014862.4

p.R404H

c.1211G>A

1 paper

NM_014862.4

p.R404C

c.1210C>T

1 paper

NM_014862.4

p.R402Q

c.1205G>A

1 paper

NM_014862.4

p.P423S

c.1267C>T

1 paper

NM_014862.4

p.E427K

c.1279G>A

1 paper

NM_014862.4

p.V390F

c.1168G>T

1 paper

NM_014862.4

p.Y430N

c.1288T>A

1 paper

NM_014862.4

p.K439Splc

c.1316+193C>T