Varaico: Literature-Extracted Genetic Variants

Gene:NEUROG3
Variant:p.H144insFs

NEUROG3

90 papers

RefSeq Summary

The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects i...

Pfam Domains

HLHaa 84–136UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

neurogenin 3

HGNC Alias Symbols

Atoh5; Math4B; ngn3; bHLHa7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020999.4
p.H144insFs
c.431_432insC
Surrounding Variants
1 paper
NM_020999.4
p.H144fs
c.430_431fs
1 paper
NM_020999.4
p.A142A
c.426G>A
1 paper
NM_020999.4
p.T138R
c.413C>G
1 paper
NM_020999.4
p.Q137R
c.410A>G
1 paper
NM_020999.4
p.L135fs
c.403_404fs
8 papers
NM_020999.4
p.L135P
c.404T>C
1 paper
NM_020999.4
p.I132F
c.394A>T
1 paper
NM_020999.4
p.G157R
c.469G>C
1 paper
NM_020999.4
p.G157R
c.469G>A
1 paper
NM_020999.4
p.G157V
c.470G>T
1 paper
NM_020999.4
p.L159L
c.477G>A
1 paper
NM_020999.4
p.T124R
c.371C>G
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