Varaico: Literature-Extracted Genetic Variants

Gene:NPAS2
Variant:p.S164N

NPAS2

99 papers

RefSeq Summary

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific...

Pfam Domains

HLHaa 10–59UCSCHelix-loop-helix DNA-binding domain
PASaa 84–175UCSCPAS fold
PAS_11aa 248–355UCSCPAS domain

Gene Aliases

HGNC Name

neuronal PAS domain protein 2

HGNC Alias Symbols

MOP4; PASD4; bHLHe9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002518.4
p.S164N
c.491G>A
Surrounding Variants
1 paper
NM_002518.4
p.D153E
c.459T>A
1 paper
NM_002518.4
p.L150P
c.449T>C
1 paper
NM_002518.4
p.E137V
c.410A>T
3 papers
NM_002518.4
p.Q136R
c.407A>G
6 papers
NM_002518.4
p.F132I
c.394T>A
1 paper
NM_002518.4
p.V124I
c.370G>A
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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."