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.S274fs

c.820_821fs

Surrounding Variants

1 paper

NM_002500.5

p.S274insFs

c.820dupA

1 paper

NM_002500.5

p.P275T

c.823C>A

1 paper

NM_002500.5

p.F269_G271del3

c.805_812del9

1 paper

NM_002500.5

p.S278N

c.833G>A

1 paper

NM_002500.5

p.S268S

c.804C>A

1 paper

NM_002500.5

p.G281G

c.843C>T

1 paper

NM_002500.5

p.N282S

c.845A>G

1 paper

NM_002500.5

p.S266T

c.797G>C

1 paper

NM_002500.5

p.S266G

c.796A>G

1 paper

NM_002500.5

p.S284C

c.851C>G

1 paper

NM_002500.5

p.T262A

c.784A>G

1 paper

NM_002500.5

p.P289R

c.866C>G