Varaico: Literature-Extracted Genetic Variants

Gene:ATOH7
Variant:p.R50_N57insFs

ATOH7

44 papers

RefSeq Summary

This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice ...

Pfam Domains

HLHaa 41–93UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

atonal bHLH transcription factor 7

HGNC Alias Symbols

Math5; bHLHa13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145178.4
p.R50_N57insFs
c.148_170dup23
Surrounding Variants
4 papers
NM_145178.4
p.A59T
c.175G>A
3 papers
NM_145178.4
p.A59V
c.176C>T
1 paper
NM_145178.4
p.A59G
c.176C>G
1 paper
NM_145178.4
p.L56P
c.167T>C
1 paper
NM_145178.4
p.R62S
c.184C>A
1 paper
NM_145178.4
p.R62L
c.185G>T
1 paper
NM_145178.4
p.R51G
c.151C>G
6 papers
NM_145178.4
p.R65G
c.193A>G
10 papers
NM_145178.4
p.E49V
c.146A>T
1 paper
NM_145178.4
p.E49K
c.145G>A
1 paper
NM_145178.4
p.R48del1
c.142_143delGCG
2 papers
NM_145178.4
p.R41_R48del0
c.121_144del24
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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."