Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.H62delFs

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_001142.2
p.H62delFs
c.185delA
Surrounding Variants
3 papers
NM_182680.1
p.H77L
c.230A>T
1 paper
NM_001142.2
p.H63delFs
c.189delC
4 papers
NM_182680.1
p.P81L
c.242C>T
NM_182681.1
p.P51L
c.152C>T
1 paper
NM_001142.2
p.V68delFs
c.202delG
5 papers
NM_182680.1
p.P70T
c.208C>A
1 paper
NM_001142.2
p.Y52delFs
c.155delA
6 papers
NM_001142.2
p.S51F
c.152C>T
1 paper
NM_001142.2
p.H73R
c.218A>G
1 paper
NM_182680.1
p.P88S
c.262C>T
1 paper
NM_001142.2
p.P75T
c.223C>A
1 paper
NM_001142.2
p.P48_Y49Splc
c.145-1G>A
9 papers
NM_001142.2
p.H77L
c.230A>T
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