Varaico: Literature-Extracted Genetic Variants

Gene:NEUROG3
Variant:p.R55delFs

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.R55delFs
c.163delG
Surrounding Variants
1 paper
NM_020999.4
p.R55fs
c.163_164fs
1 paper
NM_020999.4
p.R64P
c.191G>C
1 paper
NM_020999.4
p.T40fs
c.118_119fs
2 papers
NM_020999.4
p.T40T
c.120T>A
3 papers
NM_020999.4
p.P39delFs
c.117delG
1 paper
NM_020999.4
p.P36insFs
c.107_108ins4
1 paper
NM_020999.4
p.E74V
c.221A>T
4 papers
NM_020999.4
p.E28*
c.82G>T
3 papers
NM_020999.4
p.S83G
c.247A>G
1 paper
NM_020999.4
p.K87Q
c.259A>C
1 paper
NM_020999.4
p.P22R
c.65C>G
2 papers
NM_020999.4
p.N89D
c.265A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."