Varaico: Literature-Extracted Genetic Variants

Gene:ASCL3
Variant:p.V39M

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
1 paper
NM_020646.3
p.V39M
c.115G>A
Surrounding Variants
1 paper
NM_020646.3
p.A43S
c.127G>T
1 paper
NM_020646.3
p.P33S
c.97C>T
1 paper
NM_020646.3
p.R55L
c.164G>T
1 paper
NM_020646.3
p.P59R
c.176C>G
1 paper
NM_020646.3
p.D61E
c.183C>G
1 paper
NM_020646.3
p.D61E
c.183C>A
1 paper
NM_020646.3
p.F74S
c.221T>C
1 paper
NM_020646.3
p.P77L
c.230C>T
1 paper
NM_020646.3
p.G85fs
c.253_254fs
1 paper
NM_020646.3
p.G91R
c.271G>C
1 paper
NM_020646.3
p.G91R
c.271G>A
1 paper
NM_020646.3
p.E100Q
c.298G>C
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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."