Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.P129delFs

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
4 papers
NM_001142.2
p.P129delFs
c.385delC
Surrounding Variants
2 papers
NM_182680.1
p.Y141fs
c.421_422fs
1 paper
NM_001142.2
p.P126S
c.376C>T
2 papers
NM_182680.1
p.P140delFs
c.420delC
1 paper
NM_182680.1
p.Q149P
c.446A>C
1 paper
NM_001142.2
p.P121T
c.361C>A
1 paper
NM_182681.1
p.H121R
c.362A>G
1 paper
NM_001142.2
p.M140delFs
c.420delG
1 paper
NM_001142.2
p.H115delFs
c.345delC
2 papers
NM_182680.1
p.H129fs
c.385_386fs
1 paper
NM_001142.2
p.P142P
c.426C>G
2 papers
NM_182680.1
p.H129delFs
c.385delC
7 papers
NM_182680.1
p.P158delFs
c.473delC
NM_001142.2
p.P144delFs
c.431delC
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