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

4 papers

NM_002500.5

p.P245delFs

c.734delG

Surrounding Variants

1 paper

NM_002500.5

p.P245L

c.734C>T

2 papers

NM_002500.5

p.P245R

c.734C>G

2 papers

NM_002500.5

p.P245fs

c.733_734fs

2 papers

NM_002500.5

p.P246P

c.738G>A

2 papers

NM_002500.5

p.H247Q

c.741C>G

1 paper

NM_002500.5

p.H247fs

c.739_740fs

2 papers

NM_002500.5

p.H247Q

c.741C>A

1 paper

NM_002500.5

p.Y249N

c.745T>A

1 paper

NM_002500.5

p.V242F

c.724G>T

1 paper

NM_002500.5

p.V242L

c.724G>C

5 papers

NM_002500.5

p.V242I

c.724G>A

2 papers

NM_002500.5

p.Y249C

c.746A>G