Varaico: Literature-Extracted Genetic Variants

Gene:AMELX

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
1–12 of 111 variants
21 papers
NM_001142.2
p.W4S
c.11G>C
19 papers
NM_001142.2
p.M1T
c.2T>C
14 papers
NM_001142.2
p.W4*
c.12G>A
12 papers
NM_001142.2
p.G12V
c.35G>T
11 papers
NM_001142.2
p.W4*
c.11G>A
9 papers
NM_001142.2
p.H77L
c.230A>T
7 papers
NM_182680.1
p.A40A
c.120T>C
7 papers
NM_001142.2
p.D191Y
c.571G>T
6 papers
NM_001142.2
p.W4C
c.12G>C
6 papers
NM_001142.2
p.I5_A8del0
c.14_22del9
6 papers
NM_001142.2
p.S51F
c.152C>T
5 papers
NM_182680.1
p.P70T
c.208C>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."