Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD2
Variant:p.E85_E86del1

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
2 papers
NM_006160.4
p.E85_E86del1
c.255_257delTCC
Surrounding Variants
2 papers
NM_006160.4
p.E85_E86del2
c.253_257del6
1 paper
NM_006160.4
p.K113T
c.338A>C
1 paper
NM_006160.4
p.P46_P59del0
c.138_176del39
1 paper
NM_006160.4
p.P51_A52ins1
c.153_154insCTG
1 paper
NM_006160.4
p.G50E
c.149G>A
1 paper
NM_006160.4
p.G47del1
c.139_140delCCC
1 paper
NM_006160.4
p.P46_G47del1
c.138_140delCCT
2 papers
NM_006160.4
p.R129W
c.385C>T
9 papers
NM_006160.4
p.E130Q
c.388G>C
2 papers
NM_006160.4
p.E130K
c.388G>A
1 paper
NM_006160.4
p.E130A
c.389A>C
8 papers
NM_006160.4
p.M134T
c.401T>C
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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."