Varaico: Literature-Extracted Genetic Variants

NPAS3

62 papers

RefSeq Summary

This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in n...

Pfam Domains

bHLH_HIF1Aaa 46–113UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 150–228UCSCPAS fold

PAS_3aa 343–430UCSCPAS fold

Gene Aliases

HGNC Name

neuronal PAS domain protein 3

HGNC Alias Symbols

MOP6; PASD6; bHLHe12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001164749.2

p.V296M

c.886G>A

Surrounding Variants

8 papers

NM_001164749.2

p.V304I

c.910G>A

1 paper

NM_022123.3

p.M307I

c.921G>A

1 paper

NM_001164749.2

p.Y353_M354del1

c.1058_1060delATA

1 paper

NM_001164749.2

p.D355_L356del2

c.1063_1067del6

1 paper

NM_001164749.2

p.D355_L356del1

c.1064_1066delATC

1 paper

NM_001164749.2

p.H371R

c.1112A>G