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.Q569H

c.1707G>T

Surrounding Variants

3 papers

NM_014862.4

p.Q569H

c.1707G>C

1 paper

NM_014862.4

p.A573T

c.1717G>A

1 paper

NM_014862.4

p.R565W

c.1693C>T

1 paper

NM_014862.4

p.P579S

c.1735C>T

1 paper

NM_014862.4

p.G546insFs

c.1636_1637insGA

1 paper

NM_014862.4

p.G546fs

c.1636_1637fs

1 paper

NM_014862.4

p.P545fs

c.1633_1634fs

1 paper

NM_014862.4

p.P545delFs

c.1633delC

1 paper

NM_014862.4

p.H543R

c.1628A>G

1 paper

NM_014862.4

p.G601E

c.1802G>A

1 paper

NM_014862.4

p.T602M

c.1805C>T

1 paper

NM_014862.4

p.S617F

c.1850C>T