Varaico: Literature-Extracted Genetic Variants

Gene:NEUROG3
Variant:p.S171fs

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
2 papers
NM_020999.4
p.S171fs
c.511_512fs
Surrounding Variants
2 papers
NM_020999.4
p.G170insFs
c.510dupG
1 paper
NM_020999.4
p.S171A
c.511T>G
2 papers
NM_020999.4
p.S171T
c.511T>A
1 paper
NM_020999.4
p.S174A
c.520T>G
7 papers
NM_020999.4
p.G167R
c.499G>C
8 papers
NM_020999.4
p.G167R
c.499G>A
1 paper
NM_020999.4
p.S177A
c.529T>G
1 paper
NM_020999.4
p.S165A
c.493T>G
1 paper
NM_020999.4
p.Q178H
c.534G>T
1 paper
NM_020999.4
p.Q178H
c.534G>C
1 paper
NM_020999.4
p.L159L
c.477G>A
1 paper
NM_020999.4
p.P184P
c.552C>T
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