Varaico: Literature-Extracted Genetic Variants

Gene:ASCL3
Variant:p.N159insFs

ASCL3

23 papers

RefSeq Summary

Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed ...

Pfam Domains

HLHaa 95–146UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

achaete-scute family bHLH transcription factor 3

HGNC Alias Symbols

bHLHa42; HASH3; Sgn1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020646.3
p.N159insFs
c.475_476dupAA
Surrounding Variants
1 paper
NM_020646.3
p.N159fs
c.475_476fs
1 paper
NM_020646.3
p.Q146P
c.437A>C
1 paper
NM_020646.3
p.R179R
c.537A>G
1 paper
NM_020646.3
p.R128*
c.382C>T
1 paper
NM_020646.3
p.R117H
c.350G>A
1 paper
NM_020646.3
p.Y113Y
c.339C>T
1 paper
NM_020646.3
p.E111K
c.331G>A
1 paper
NM_020646.3
p.R101Q
c.302G>A
1 paper
NM_020646.3
p.E100E
c.300G>A
1 paper
NM_020646.3
p.E100Q
c.298G>C
1 paper
NM_020646.3
p.G91R
c.271G>C
1 paper
NM_020646.3
p.G91R
c.271G>A
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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."