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.V216L

c.646G>C

Surrounding Variants

1 paper

NM_002500.5

p.V216L

c.646G>T

2 papers

NM_002500.5

p.V216I

c.646G>A

1 paper

NM_002500.5

p.A210_P215del0

c.630_644del15

1 paper

NM_002500.5

p.P215R

c.644C>G

1 paper

NM_002500.5

p.H217Y

c.649C>T

1 paper

NM_002500.5

p.P215A

c.643C>G

1 paper

NM_002500.5

p.S213_F214insFs

c.639_640insT

1 paper

NM_002500.5

p.Y219F

c.656A>T

1 paper

NM_002500.5

p.Y219C

c.656A>G

1 paper

NM_002500.5

p.A212P

c.634G>C

1 paper

NM_002500.5

p.A210D

c.629C>A

1 paper

NM_002500.5

p.A210P

c.628G>C