Varaico: Literature-Extracted Genetic Variants

Gene:ASCL5

ASCL5

18 papers

Pfam Domains

HLHaa 85–136UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

achaete-scute family bHLH transcription factor 5

HGNC Alias Symbols

bHLHa47; ASH-5; AmeloD

Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
4 papers
NM_001270601.2
p.W205C
c.615G>T
4 papers
NM_001270601.2
p.W205C
c.615G>C
2 papers
NM_001270601.2
p.R7W
c.19C>T
2 papers
NM_001270601.2
p.T166P
c.496A>C
2 papers
NM_001270601.2
p.S191P
c.571T>C
1 paper
NM_001270601.2
p.S19R
c.55A>C
1 paper
NM_001270601.2
p.S19R
c.57C>G
1 paper
NM_001270601.2
p.S19R
c.57C>A
1 paper
NM_001270601.2
p.F73L
c.217T>C
1 paper
NM_001270601.2
p.F73L
c.219C>G
1 paper
NM_001270601.2
p.F73L
c.219C>A
1 paper
NM_001270601.2
p.E92K
c.274G>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."