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.L10P

c.29T>C

Surrounding Variants

1 paper

NM_002500.5

p.L10L

c.30G>T

5 papers

NM_002500.5

p.G12R

c.34G>C

1 paper

NM_002500.5

p.G12D

c.35G>A

1 paper

NM_002500.5

p.S8N

c.23G>A

1 paper

NM_002500.5

p.E13K

c.37G>A

1 paper

NM_002500.5

p.E7G

c.20A>G

2 papers

NM_002500.5

p.E13D

c.39G>T

2 papers

NM_002500.5

p.E13D

c.39G>C

2 papers

NM_002500.5

p.Q15E

c.43C>G

4 papers

NM_002500.5

p.P16_Q17insFs

c.48_49insC

2 papers

NM_002500.5

p.Q17Q

c.51A>G

1 paper

NM_002500.5

p.K3E

c.7A>G