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

2 papers

NM_014862.4

p.Y459fs

c.1375_1376fs

Surrounding Variants

1 paper

NM_014862.4

p.S458L

c.1373C>T

2 papers

NM_014862.4

p.S458insFs

c.1372_1373dupTC

1 paper

NM_014862.4

p.S457*

c.1370C>A

1 paper

NM_014862.4

p.S457*

c.1370C>G

1 paper

NM_014862.4

p.L456L

c.1368G>A

1 paper

NM_014862.4

p.S462C

c.1385C>G

1 paper

NM_014862.4

p.Q463*

c.1387C>T

1 paper

NM_014862.4

p.Q463Q

c.1389G>A

1 paper

NM_014862.4

p.Q444L

c.1331A>T

1 paper

NM_014862.4

p.V464I

c.1390G>A

1 paper

NM_014862.4

p.I486N

c.1457T>A

1 paper

NM_014862.4

p.R494Q

c.1481G>A