Varaico: Literature-Extracted Genetic Variants

Gene:AMTN
Variant:p.L51*

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.L51*
c.152T>G
Surrounding Variants
1 paper
NM_212557.4
p.L51*
c.152T>A
1 paper
NM_212557.4
p.S52G
c.154A>G
1 paper
NM_212557.4
p.L53_I54del2
c.157_161del6
1 paper
NM_212557.4
p.L53_I54del1
c.158_160delTGA
1 paper
NM_212557.4
p.Q58*
c.172C>T
1 paper
NM_212557.4
p.L62delFs
c.185delT
1 paper
NM_212557.4
p.G63delFs
c.189delG
1 paper
NM_212557.4
p.P77H
c.230C>A
3 papers
NM_212557.4
p.G78S
c.232G>A
1 paper
NM_212557.4
p.Q46_V47Splc
c.138+1G>C
1 paper
NM_212557.4
p.G87*
c.259G>T
1 paper
NM_212557.4
p.N45S
c.134A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."