Varaico: Literature-Extracted Genetic Variants

Gene:ASCL5
Variant:p.W205C

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
Selected Variant
4 papers
NM_001270601.2
p.W205C
c.615G>T
Surrounding Variants
4 papers
NM_001270601.2
p.W205C
c.615G>C
2 papers
NM_001270601.2
p.S191P
c.571T>C
1 paper
NM_001270601.2
p.R171C
c.511C>T
1 paper
NM_001270601.2
p.R168H
c.503G>A
2 papers
NM_001270601.2
p.T166P
c.496A>C
1 paper
NM_001270601.2
p.P111H
c.332C>A
1 paper
NM_001270601.2
p.G102G
c.306C>G
1 paper
NM_001270601.2
p.C98R
c.292T>C
1 paper
NM_001270601.2
p.E92K
c.274G>A
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.F73L
c.217T>C
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