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

10 papers

NM_002500.5

p.D122insFs

c.364dupG

Surrounding Variants

1 paper

NM_002500.5

p.D122fs

c.364_365fs

6 papers

NM_002500.5

p.D122fs

c.364_365fs

1 paper

NM_002500.5

p.N123S

c.368A>G

1 paper

NM_002500.5

p.L124M

c.370C>A

2 papers

NM_002500.5

p.A119A

c.357G>A

1 paper

NM_002500.5

p.A119S

c.355G>T

1 paper

NM_002500.5

p.N118N

c.354C>T

1 paper

NM_002500.5

p.H115_L117del3

c.343_350del9

4 papers

NM_002500.5

p.V127A

c.380T>C

1 paper

NM_002500.5

p.L117P

c.350T>C

1 paper

NM_002500.5

p.P129S

c.385C>T

1 paper

NM_002500.5

p.M114K

c.341T>A