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.E49V

c.146A>T

Surrounding Variants

1 paper

NM_002500.5

p.N47K

c.141C>G

1 paper

NM_002500.5

p.N47K

c.141C>A

13 papers

NM_002500.5

p.T45A

c.133A>G

1 paper

NM_002500.5

p.R54K

c.161G>A

5 papers

NM_002500.5

p.R54R

c.162G>A

2 papers

NM_002500.5

p.E44K

c.130G>A

2 papers

NM_002500.5

p.L43L

c.129C>A

1 paper

NM_002500.5

p.N55D

c.163A>G

1 paper

NM_002500.5

p.L43I

c.127C>A

1 paper

NM_002500.5

p.K38_D42delFs

c.112_124del13

1 paper

NM_002500.5

p.D42H

c.124G>C

1 paper

NM_002500.5

p.G57E

c.170G>A