Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.P104S

AMELX

182 papers

RefSeq Summary

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-link...

Pfam Domains

Amelogeninaa 21–191UCSCAmelogenin

Gene Aliases

HGNC Name

amelogenin X-linked

HGNC Previous Symbols

AMG; AIH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001142.2
p.P104S
c.310C>T
Surrounding Variants
1 paper
NM_182680.1
p.Q120insFs
c.359dupA
1 paper
NM_182680.1
p.H121Y
c.361C>T
1 paper
NM_182680.1
p.H121R
c.362A>G
1 paper
NM_001142.2
p.P99P
c.297A>G
3 papers
NM_001142.2
p.T110T
c.330T>A
1 paper
NM_001142.2
p.P96L
c.287C>T
1 paper
NM_182680.1
p.V108M
c.322G>A
2 papers
NM_182680.1
p.H129delFs
c.385delC
2 papers
NM_182680.1
p.H129fs
c.385_386fs
1 paper
NM_001142.2
p.H115delFs
c.345delC
1 paper
NM_001142.2
p.P89fs
c.265_266fs
1 paper
NM_001142.2
p.P121T
c.361C>A
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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."