Varaico: Literature-Extracted Genetic Variants

Gene:ASCL4
Variant:p.Q59Q

ASCL4

14 papers

RefSeq Summary

Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed ...

Pfam Domains

HLHaa 74–125UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

achaete-scute family bHLH transcription factor 4

HGNC Alias Symbols

HASH4; bHLHa44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203436.3
p.Q59Q
c.177G>A
Surrounding Variants
1 paper
NM_203436.3
p.V63V
c.189G>T
1 paper
NM_203436.3
p.A72A
c.216C>T
1 paper
NM_203436.3
p.G91C
c.271G>T
1 paper
NM_203436.3
p.H98delins
c.293_294delinsCT
1 paper
NM_203436.3
p.L108F
c.322C>T
1 paper
NM_203436.3
p.E126D
c.378G>C
1 paper
NM_203436.3
p.A139V
c.416C>T
1 paper
NM_203436.3
p.V142A
c.425T>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."