Varaico: Literature-Extracted Genetic Variants

Gene:NPAS2
Variant:p.G624G

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.G624G
c.1872C>G
Surrounding Variants
1 paper
NM_002518.4
p.N646N
c.1938T>C
1 paper
NM_002518.4
p.H668_D669Fs
c.2002_2006delinsAGAFs
1 paper
NM_002518.4
p.L672L
c.2016C>T
1 paper
NM_002518.4
p.A690T
c.2068G>A
1 paper
NM_002518.4
p.V696I
c.2086G>A
1 paper
NM_002518.4
p.S697S
c.2091C>T
1 paper
NM_002518.4
p.K704Splc
c.2111+329C>T
1 paper
NM_002518.4
p.Q609_G610Splc
c.1827+89G>A
1 paper
NM_002518.4
p.I606V
c.1816A>G
1 paper
NM_002518.4
p.R570K
c.1709G>A
1 paper
NM_002518.4
p.S554fs
c.1660_1661fs
1 paper
NM_002518.4
p.S554delFs
c.1660delA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."