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.S338T

c.1013G>C

Surrounding Variants

1 paper

NM_002500.5

p.F336S

c.1007T>C

1 paper

NM_002500.5

p.S335C

c.1004C>G

2 papers

NM_002500.5

p.H342N

c.1024C>A

1 paper

NM_002500.5

p.I333S

c.998T>G

1 paper

NM_002500.5

p.R344*

c.1030C>T

2 papers

NM_002500.5

p.R344Q

c.1031G>A

2 papers

NM_002500.5

p.V345L

c.1033G>C

1 paper

NM_002500.5

p.D331E

c.993C>G

1 paper

NM_002500.5

p.D331E

c.993C>A

2 papers

NM_002500.5

p.V345V

c.1035C>A

1 paper

NM_002500.5

p.I330T

c.989T>C

1 paper

NM_002500.5

p.A348S

c.1042G>T