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.E70K

c.208G>A

Surrounding Variants

1 paper

NM_002500.5

p.E69A

c.206A>C

1 paper

NM_002500.5

p.E69*

c.205G>T

2 papers

NM_002500.5

p.E71K

c.211G>A

1 paper

NM_002500.5

p.E71E

c.213A>G

1 paper

NM_002500.5

p.E68A

c.203A>C

2 papers

NM_002500.5

p.E73A

c.218A>C

2 papers

NM_002500.5

p.D65D

c.195C>T

1 paper

NM_002500.5

p.E75K

c.223G>A

1 paper

NM_002500.5

p.D76Y

c.226G>T

1 paper

NM_002500.5

p.D76N

c.226G>A

1 paper

NM_002500.5

p.D76E

c.228T>G

1 paper

NM_002500.5

p.D76E

c.228T>A