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.Y249N

c.745T>A

Surrounding Variants

2 papers

NM_002500.5

p.Y249C

c.746A>G

1 paper

NM_002500.5

p.Y249*

c.747C>G

1 paper

NM_002500.5

p.Y249*

c.747C>A

6 papers

NM_002500.5

p.S250R

c.748A>C

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

6 papers

NM_002500.5

p.S250R

c.750C>G

6 papers

NM_002500.5

p.S250R

c.750C>A

2 papers

NM_002500.5

p.A251S

c.751G>T

2 papers

NM_002500.5

p.P246P

c.738G>A

1 paper

NM_002500.5

p.H247_A251delFs

c.741_753del13