Varaico: Literature-Extracted Genetic Variants

Gene:AMTN
Variant:p.Q46_V47Splc

AMTN

37 papers

RefSeq Summary

The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit spe...

Pfam Domains

Amelotinaa 17–207UCSCAmelotin

Gene Aliases

HGNC Name

amelotin

HGNC Alias Symbols

UNQ689; RSTI689

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_212557.4
p.Q46_V47Splc
c.138+1G>C
Surrounding Variants
1 paper
NM_212557.4
p.N45S
c.134A>G
1 paper
NM_212557.4
p.N40D
c.118A>G
1 paper
NM_212557.4
p.T37delFs
c.111delA
3 papers
NM_212557.4
p.P33delins
c.98delinsCTCA
1 paper
NM_212557.4
p.P33L
c.98C>T
1 paper
NM_212557.4
p.G25*
c.73G>T
1 paper
NM_212557.4
p.A23fs
c.67_68fs
1 paper
NM_212557.4
p.P18_Q19Splc
c.55-1G>A
2 papers
NM_212557.4
p.P18_Q19Splc
c.55-2A>C
1 paper
NM_212557.4
p.L51*
c.152T>A
1 paper
NM_212557.4
p.L51*
c.152T>G
1 paper
NM_212557.4
p.S52G
c.154A>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."