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.L253L

c.759G>T

Surrounding Variants

2 papers

NM_002500.5

p.L253P

c.758T>C

1 paper

NM_002500.5

p.A252V

c.755C>T

1 paper

NM_002500.5

p.A252G

c.755C>G

1 paper

NM_002500.5

p.H247_A251delFs

c.741_753del13

1 paper

NM_002500.5

p.P255L

c.764C>T

2 papers

NM_002500.5

p.F256L

c.766T>C

3 papers

NM_002500.5

p.F256fs

c.766_767fs

2 papers

NM_002500.5

p.A251S

c.751G>T

6 papers

NM_002500.5

p.S250R

c.750C>G

2 papers

NM_002500.5

p.F256L

c.768C>G

6 papers

NM_002500.5

p.S250R

c.750C>A

2 papers

NM_002500.5

p.F256L

c.768C>A