Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.G12R

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
3 papers
NM_001142.2
p.G12R
c.34G>A
Surrounding Variants
3 papers
NM_001142.2
p.G12R
c.34G>C
4 papers
NM_001142.2
p.G12A
c.35G>C
12 papers
NM_001142.2
p.G12V
c.35G>T
1 paper
NM_001142.2
p.A13S
c.37G>T
1 paper
NM_001142.2
p.L10P
c.29T>C
1 paper
NM_001142.2
p.A8V
c.23C>T
2 papers
NM_001142.2
p.A16D
c.47C>A
1 paper
NM_001142.2
p.L6fs
c.16_17fs
1 paper
NM_001142.2
p.L6delFs
c.17delT
6 papers
NM_001142.2
p.I5_A8del0
c.14_22del9
14 papers
NM_001142.2
p.W4*
c.12G>A
6 papers
NM_001142.2
p.W4C
c.12G>C
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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."