Varaico: Literature-Extracted Genetic Variants

Gene:ATOH1
Variant:p.E12_V13insFs

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
1 paper
NM_005172.2
p.E12_V13insFs
c.36_37insC
Surrounding Variants
1 paper
NM_005172.2
p.D18E
c.54C>A
1 paper
NM_005172.2
p.D18E
c.54C>G
1 paper
NM_005172.2
p.L5_H6insFs
c.15_16insA
1 paper
NM_005172.2
p.H27D
c.79C>G
1 paper
NM_005172.2
p.P34insFs
c.102dupG
1 paper
NM_005172.2
p.P35Q
c.104C>A
1 paper
NM_005172.2
p.T40N
c.119C>A
1 paper
NM_005172.2
p.A43ins1
c.127_128insTGG
1 paper
NM_005172.2
p.V48A
c.143T>C
1 paper
NM_005172.2
p.L56fs
c.166_167fs
1 paper
NM_005172.2
p.R62C
c.184C>T
1 paper
NM_005172.2
p.R62H
c.185G>A
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