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.H241D

c.721C>G

Surrounding Variants

22 papers

NM_002500.5

p.H241Q

c.723C>G

22 papers

NM_002500.5

p.H241Q

c.723C>A

1 paper

NM_002500.5

p.V242F

c.724G>T

1 paper

NM_002500.5

p.V242L

c.724G>C

5 papers

NM_002500.5

p.V242I

c.724G>A

1 paper

NM_002500.5

p.V239I

c.715G>A

1 paper

NM_002500.5

p.S237S

c.711C>T

1 paper

NM_002500.5

p.S237F

c.710C>T

1 paper

NM_002500.5

p.S237C

c.710C>G

1 paper

NM_002500.5

p.S237T

c.709T>A

2 papers

NM_002500.5

p.P245fs

c.733_734fs

1 paper

NM_002500.5

p.P245L

c.734C>T