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

8 papers

NM_002500.5

p.L157R

c.470T>G

Surrounding Variants

1 paper

NM_002500.5

p.L157fs

c.469_470fs

2 papers

NM_002500.5

p.R158C

c.472C>T

1 paper

NM_002500.5

p.I156insFs

c.467_468insT

1 paper

NM_002500.5

p.I156_L157insFs

c.468_469ins4

1 paper

NM_002500.5

p.I156T

c.467T>C

8 papers

NM_002500.5

p.S159P

c.475T>C

1 paper

NM_002500.5

p.E155D

c.465G>T

2 papers

NM_002500.5

p.S154S

c.462G>A

1 paper

NM_002500.5

p.K161N

c.483A>T

1 paper

NM_002500.5

p.K161N

c.483A>C

2 papers

NM_002500.5

p.W151*

c.453G>A

1 paper

NM_002500.5

p.P163S

c.487C>T