Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.P62R

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_182680.1
p.P62R
c.185C>G
Surrounding Variants
2 papers
NM_182680.1
p.P62fs
c.184_185fs
2 papers
NM_182680.1
p.P62delFs
c.185delC
1 paper
NM_001142.2
p.P48_Y49Splc
c.144+5G>T
1 paper
NM_001142.2
p.P48_Y49Splc
c.144+11A>G
1 paper
NM_182681.1
p.Y26delFs
c.77delA
3 papers
NM_182680.1
p.P52R
c.155C>G
2 papers
NM_182680.1
p.P52L
c.155C>T
3 papers
NM_182680.1
p.P52fs
c.154_155fs
3 papers
NM_182680.1
p.T51I
c.152C>T
3 papers
NM_182680.1
p.P52delFs
c.155delC
1 paper
NM_001142.2
p.V35M
c.103G>A
1 paper
NM_001142.2
p.V35fs
c.103_104fs
NM_182680.1
p.V49fs
c.145_146fs
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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."