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.E72G

c.215A>G

Surrounding Variants

1 paper

NM_014862.4

p.E72K

c.214G>A

1 paper

NM_014862.4

p.R74C

c.220C>T

1 paper

NM_014862.4

p.R74P

c.221G>C

1 paper

NM_014862.4

p.R76W

c.226C>T

1 paper

NM_014862.4

p.N77S

c.230A>G

1 paper

NM_014862.4

p.R65Splc

c.195-1G>A

1 paper

NM_014862.4

p.R65Splc

c.195-7T>C

1 paper

NM_014862.4

p.R65Splc

c.195-16C>T

1 paper

NM_014862.4

p.D88G

c.263A>G

1 paper

NM_014862.4

p.K102_L103insFs

c.306_307insAG

1 paper

NM_014862.4

p.I105V

c.313A>G

1 paper

NM_014862.4

p.R107H

c.320G>A