Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD2
Variant:p.E130A

NEUROD2

46 papers

RefSeq Summary

This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-4...

Pfam Domains

HLHaa 122–174UCSCHelix-loop-helix DNA-binding domain
Neuro_bHLHaa 180–310UCSCNeuronal helix-loop-helix transcription factor

Gene Aliases

HGNC Name

neuronal differentiation 2

HGNC Alias Symbol

NDRF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006160.4
p.E130A
c.389A>C
Surrounding Variants
9 papers
NM_006160.4
p.E130Q
c.388G>C
2 papers
NM_006160.4
p.E130K
c.388G>A
2 papers
NM_006160.4
p.R129W
c.385C>T
8 papers
NM_006160.4
p.M134T
c.401T>C
1 paper
NM_006160.4
p.N138_A140del3
c.412_419del9
1 paper
NM_006160.4
p.K113T
c.338A>C
1 paper
NM_006160.4
p.K153_T154insCTG
c.457_461ins9
4 papers
NM_006160.4
p.L163P
c.488T>C
2 papers
NM_006160.4
p.E85_E86del2
c.253_257del6
2 papers
NM_006160.4
p.E85_E86del1
c.255_257delTCC
1 paper
NM_006160.4
p.L196L
c.586C>T
1 paper
NM_006160.4
p.P46_P59del0
c.138_176del39
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