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

2 papers

NM_002500.5

p.L176S

c.527T>C

Surrounding Variants

1 paper

NM_002500.5

p.G175A

c.524G>C

3 papers

NM_002500.5

p.L172F

c.514C>T

2 papers

NM_002500.5

p.T180T

c.540C>A

1 paper

NM_002500.5

p.T181A

c.541A>G

1 paper

NM_002500.5

p.N182K

c.546C>A

2 papers

NM_002500.5

p.L183Q

c.548T>A

1 paper

NM_002500.5

p.V169F

c.505G>T

1 paper

NM_002500.5

p.P163S

c.487C>T

1 paper

NM_002500.5

p.L190R

c.569T>G

1 paper

NM_002500.5

p.K161N

c.483A>T

1 paper

NM_002500.5

p.K161N

c.483A>C

8 papers

NM_002500.5

p.S159P

c.475T>C