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.W22*

c.66G>A

Surrounding Variants

1 paper

NM_002500.5

p.W22*

c.65G>A

1 paper

NM_002500.5

p.T23P

c.67A>C

1 paper

NM_002500.5

p.S21T

c.62G>C

1 paper

NM_002500.5

p.D24V

c.71A>T

1 paper

NM_002500.5

p.E25K

c.73G>A

1 paper

NM_002500.5

p.C26S

c.76T>A

1 paper

NM_002500.5

p.P19R

c.56C>G

1 paper

NM_002500.5

p.C26S

c.77G>C

3 papers

NM_002500.5

p.L27F

c.79C>T

1 paper

NM_002500.5

p.G18S

c.52G>A

2 papers

NM_002500.5

p.L27L

c.81C>T

2 papers

NM_002500.5

p.Q17Q

c.51A>G