Varaico: Literature-Extracted Genetic Variants

Gene:ATOH7
Variant:p.P18R

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.P18R
c.53C>G
Surrounding Variants
1 paper
NM_145178.4
p.P18Q
c.53C>A
2 papers
NM_145178.4
p.P18fs
c.52_53fs
3 papers
NM_145178.4
p.P18delFs
c.53delG
1 paper
NM_145178.4
p.G21fs
c.61_62fs
1 paper
NM_145178.4
p.R14H
c.41G>A
1 paper
NM_145178.4
p.P9insFs
c.26dupC
1 paper
NM_145178.4
p.P6T
c.16C>A
1 paper
NM_145178.4
p.A32fs
c.94_95fs
2 papers
NM_145178.4
p.A32delFs
c.94delC
1 paper
NM_145178.4
p.R34L
c.101G>T
1 paper
NM_145178.4
p.M1T
c.2T>C
1 paper
NM_145178.4
p.M1V
c.1A>G
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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."