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

1–12 of 294 variants

22 papers

NM_002500.5

p.H241Q

c.723C>G

22 papers

NM_002500.5

p.H241Q

c.723C>A

20 papers

NM_002500.5

p.R111L

c.332G>T

19 papers

NM_002500.5

p.P197H

c.590C>A

16 papers

NM_002500.5

p.E110K

c.328G>A

15 papers

NM_002500.5

p.R103P

c.308G>C

14 papers

NM_002500.5

p.H206insFs

c.616dupC

13 papers

NM_002500.5

p.T45A

c.133A>G

11 papers

NM_002500.5

p.E59Q

c.175G>C

10 papers

NM_002500.5

p.D122insFs

c.364dupG

9 papers

NM_002500.5

p.L143delFs

c.427_428delAG

8 papers

NM_002500.5

p.L157R

c.470T>G