Varaico: Literature-Extracted Genetic Variants

Gene:ATOH1
Variant:p.D138E

ATOH1

67 papers

Pfam Domains

HLHaa 160–212UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

atonal bHLH transcription factor 1

HGNC Alias Symbols

HATH1; MATH-1; Math1; bHLHa14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005172.2
p.D138E
c.414C>G
Surrounding Variants
3 papers
NM_005172.2
p.D138E
c.414C>A
1 paper
NM_005172.2
p.V135G
c.404T>G
1 paper
NM_005172.2
p.R146Q
c.437G>A
1 paper
NM_005172.2
p.A147delFs
c.441delC
1 paper
NM_005172.2
p.A147fs
c.439_440fs
1 paper
NM_005172.2
p.Q127_L128insTGG
c.379_383ins9
1 paper
NM_005172.2
p.S150I
c.449G>T
1 paper
NM_005172.2
p.P121Q
c.362C>A
1 paper
NM_005172.2
p.Q159L
c.476A>T
2 papers
NM_005172.2
p.R161G
c.481C>G
1 paper
NM_005172.2
p.L162P
c.485T>C
1 paper
NM_005172.2
p.A113V
c.338C>T
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