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.D202E

c.606C>G

Surrounding Variants

4 papers

NM_002500.5

p.D202E

c.606C>A

1 paper

NM_002500.5

p.M203L

c.607A>T

1 paper

NM_002500.5

p.M203L

c.607A>C

1 paper

NM_002500.5

p.M203R

c.608T>G

1 paper

NM_002500.5

p.Q201H

c.603G>T

1 paper

NM_002500.5

p.Q201H

c.603G>C

2 papers

NM_002500.5

p.P204S

c.610C>T

1 paper

NM_002500.5

p.Q201*

c.601C>T

1 paper

NM_002500.5

p.Q201K

c.601C>A

1 paper

NM_002500.5

p.H206Y

c.616C>T

8 papers

NM_002500.5

p.H206fs

c.616_617fs

14 papers

NM_002500.5

p.H206insFs

c.616dupC