Varaico: Literature-Extracted Genetic Variants

Gene:NPAS2
Variant:p.K704Splc

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.K704Splc
c.2111+329C>T
Surrounding Variants
1 paper
NM_002518.4
p.S697S
c.2091C>T
1 paper
NM_002518.4
p.V696I
c.2086G>A
1 paper
NM_002518.4
p.A690T
c.2068G>A
1 paper
NM_002518.4
p.L672L
c.2016C>T
1 paper
NM_002518.4
p.H668_D669Fs
c.2002_2006delinsAGAFs
1 paper
NM_002518.4
p.N646N
c.1938T>C
1 paper
NM_002518.4
p.G624G
c.1872C>G
2 papers
NM_002518.4
p.Y705Y
c.2115C>T
1 paper
NM_002518.4
p.A706T
c.2116G>A
2 papers
NM_002518.4
p.T710T
c.2130C>T
1 paper
NM_002518.4
p.P719P
c.2157C>T
1 paper
NM_002518.4
p.S723N
c.2168G>A
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