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.F257L

c.771T>A

Surrounding Variants

1 paper

NM_002500.5

p.F257L

c.771T>G

1 paper

NM_002500.5

p.E258*

c.772G>T

2 papers

NM_002500.5

p.E258K

c.772G>A

1 paper

NM_002500.5

p.F257L

c.769T>C

2 papers

NM_002500.5

p.F256L

c.768C>G

2 papers

NM_002500.5

p.F256L

c.768C>A

1 paper

NM_002500.5

p.F256delFs

c.766_767delAA

2 papers

NM_002500.5

p.F256L

c.766T>C

3 papers

NM_002500.5

p.F256fs

c.766_767fs

3 papers

NM_002500.5

p.S259S

c.777C>T

1 paper

NM_002500.5

p.P255L

c.764C>T

1 paper

NM_002500.5

p.L253L

c.759G>T