Varaico: Literature-Extracted Genetic Variants

Gene:NPAS3
Variant:p.D89N

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.D89N
c.265G>A
Surrounding Variants
1 paper
NM_001164749.2
p.M103I
c.309G>A
1 paper
NM_001164749.2
p.E119delFs
c.355_356delGA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."