Varaico: Literature-Extracted Genetic Variants

Gene:ATOH7
Variant:p.L86L

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.L86L
c.258G>A
Surrounding Variants
1 paper
NM_145178.4
p.Q83H
c.249G>T
1 paper
NM_145178.4
p.Q83H
c.249G>C
1 paper
NM_145178.4
p.L82delFs
c.244_245delAG
1 paper
NM_145178.4
p.A97A
c.291C>G
1 paper
NM_145178.4
p.E98K
c.292G>A
1 paper
NM_145178.4
p.K74fs
c.220_221fs
1 paper
NM_145178.4
p.G71G
c.213C>A
1 paper
NM_145178.4
p.G71S
c.211G>A
1 paper
NM_145178.4
p.F102_G103insFs
c.306_307insAG
1 paper
NM_145178.4
p.Q69R
c.206A>G
1 paper
NM_145178.4
p.Q69P
c.206A>C
6 papers
NM_145178.4
p.R65G
c.193A>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."