Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.H129delFs

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
2 papers
NM_182680.1
p.H129delFs
c.385delC
Surrounding Variants
2 papers
NM_182680.1
p.H129fs
c.385_386fs
1 paper
NM_001142.2
p.H115delFs
c.345delC
3 papers
NM_001142.2
p.T110T
c.330T>A
1 paper
NM_001142.2
p.P121T
c.361C>A
1 paper
NM_182680.1
p.H121R
c.362A>G
1 paper
NM_182680.1
p.H121Y
c.361C>T
1 paper
NM_182680.1
p.Q120insFs
c.359dupA
1 paper
NM_001142.2
p.P104S
c.310C>T
2 papers
NM_182680.1
p.P140delFs
c.420delC
1 paper
NM_001142.2
p.P126S
c.376C>T
2 papers
NM_182680.1
p.Y141fs
c.421_422fs
4 papers
NM_001142.2
p.P129delFs
c.385delC
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