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.Y303H

c.907T>C

Surrounding Variants

2 papers

NM_002500.5

p.T300T

c.900C>T

1 paper

NM_002500.5

p.F299delFs

c.896_897delAA

1 paper

NM_002500.5

p.F299fs

c.895_896fs

2 papers

NM_002500.5

p.A306V

c.917C>T

2 papers

NM_002500.5

p.Y297C

c.890A>G

2 papers

NM_002500.5

p.A311T

c.931G>A

2 papers

NM_002500.5

p.E294E

c.882G>A

3 papers

NM_002500.5

p.A311D

c.932C>A

1 paper

NM_002500.5

p.F293_E294insC

c.877_881ins3

1 paper

NM_002500.5

p.S313N

c.938G>A

1 paper

NM_002500.5

p.A291insFs

c.872dupC

2 papers

NM_002500.5

p.H314L

c.941A>T