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

15 papers

NM_002500.5

p.R103P

c.308G>C

Surrounding Variants

1 paper

NM_002500.5

p.R102_R103del2

c.304_308del6

1 paper

NM_002500.5

p.L101L

c.303G>A

1 paper

NM_002500.5

p.A106V

c.317C>T

1 paper

NM_002500.5

p.R98R

c.294T>C

1 paper

NM_002500.5

p.R98insFs

c.293_294insC

1 paper

NM_002500.5

p.R109Q

c.326G>A

1 paper

NM_002500.5

p.E110Q

c.328G>C

1 paper

NM_002500.5

p.L96L

c.288G>C

16 papers

NM_002500.5

p.E110K

c.328G>A

1 paper

NM_002500.5

p.R111W

c.331C>T

4 papers

NM_002500.5

p.R111G

c.331C>G

5 papers

NM_002500.5

p.R111R

c.331C>A