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

2 papers

NM_002500.5

p.M1I

c.3G>C

Surrounding Variants

4 papers

NM_002500.5

p.M1I

c.3G>T

1 paper

NM_002500.5

p.M1_T2insFs

c.3_4insT

4 papers

NM_002500.5

p.M1I

c.3G>A

1 paper

NM_002500.5

p.M1T

c.2T>C

1 paper

NM_002500.5

p.M1del1

c.1_2delCAT

2 papers

NM_002500.5

p.T2T

c.6C>A

1 paper

NM_002500.5

p.K3E

c.7A>G

1 paper

NM_002500.5

p.E7G

c.20A>G

1 paper

NM_002500.5

p.S8N

c.23G>A

1 paper

NM_002500.5

p.L10P

c.29T>C

1 paper

NM_002500.5

p.L10L

c.30G>T

5 papers

NM_002500.5

p.G12R

c.34G>C