Varaico: Literature-Extracted Genetic Variants

NEUROD1

309 papers

RefSeq Summary

This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes tha...

Pfam Domains

HLHaa 102–154UCSCHelix-loop-helix DNA-binding domain

Neuro_bHLHaa 160–284UCSCNeuronal helix-loop-helix transcription factor

Gene Aliases

HGNC Name

neuronal differentiation 1

HGNC Alias Symbols

BETA2; BHF-1; bHLHa3; MODY6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002500.5

p.S313N

c.938G>A

Surrounding Variants

2 papers

NM_002500.5

p.H314L

c.941A>T

3 papers

NM_002500.5

p.A311D

c.932C>A

2 papers

NM_002500.5

p.A311T

c.931G>A

1 paper

NM_002500.5

p.S316A

c.946T>G

1 paper

NM_002500.5

p.I317V

c.949A>G

5 papers

NM_002500.5

p.F318S

c.953T>C

1 paper

NM_002500.5

p.F318Y

c.953T>A

1 paper

NM_002500.5

p.I317_F318insFs

c.951_954dup4

1 paper

NM_002500.5

p.S319_G320del1

c.956_958delCTG

2 papers

NM_002500.5

p.A306V

c.917C>T

2 papers

NM_002500.5

p.A322T

c.964G>A

1 paper

NM_002500.5

p.A322D

c.965C>A