Varaico: Literature-Extracted Genetic Variants

Gene:NPAS2
Variant:p.T394A

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
10 papers
NM_002518.4
p.T394A
c.1180A>G
Surrounding Variants
1 paper
NM_002518.4
p.G383C
c.1147G>T
2 papers
NM_002518.4
p.S409L
c.1226C>T
1 paper
NM_002518.4
p.A410T
c.1228G>A
1 paper
NM_002518.4
p.T421A
c.1261A>G
1 paper
NM_002518.4
p.S428Splc
c.1283-76G>T
1 paper
NM_002518.4
p.P440L
c.1319C>T
3 papers
NM_002518.4
p.P455A
c.1363C>G
1 paper
NM_002518.4
p.G456W
c.1366G>T
1 paper
NM_002518.4
p.P464_A465Splc
c.1393-87G>A
10 papers
NM_002518.4
p.S471L
c.1412C>T
1 paper
NM_002518.4
p.L485V
c.1453C>G
1 paper
NM_002518.4
p.P491S
c.1471C>T
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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."