Varaico: Literature-Extracted Genetic Variants

Gene:NEUROG3
Variant:p.P22R

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.P22R
c.65C>G
Surrounding Variants
4 papers
NM_020999.4
p.E28*
c.82G>T
1 paper
NM_020999.4
p.M1_R15delFs
c.2_44del43
1 paper
NM_020999.4
p.R15insFs
c.43_44insCA
1 paper
NM_020999.4
p.A8A
c.24G>T
1 paper
NM_020999.4
p.P36insFs
c.107_108ins4
3 papers
NM_020999.4
p.P39delFs
c.117delG
1 paper
NM_020999.4
p.T40fs
c.118_119fs
2 papers
NM_020999.4
p.T40T
c.120T>A
4 papers
NM_020999.4
p.Q4*
c.10C>T
1 paper
NM_020999.4
p.M1I
c.3G>T
1 paper
NM_020999.4
p.R55fs
c.163_164fs
1 paper
NM_020999.4
p.R55delFs
c.163delG
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