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.E32K

c.94G>A

Surrounding Variants

2 papers

NM_002500.5

p.Q30H

c.90G>C

2 papers

NM_002500.5

p.H34D

c.100C>G

3 papers

NM_002500.5

p.S29C

c.86C>G

1 paper

NM_002500.5

p.H34fs

c.100_101fs

1 paper

NM_002500.5

p.E35*

c.103G>T

1 paper

NM_002500.5

p.H34_E35delFs

c.102_103delCG

2 papers

NM_002500.5

p.L27L

c.81C>T

1 paper

NM_002500.5

p.A36insFs

c.107_108ins4

3 papers

NM_002500.5

p.L27F

c.79C>T

1 paper

NM_002500.5

p.C26S

c.77G>C

1 paper

NM_002500.5

p.C26S

c.76T>A

1 paper

NM_002500.5

p.K38R

c.113A>G