Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.Y26delFs

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_182681.1
p.Y26delFs
c.77delA
Surrounding Variants
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
2 papers
NM_182680.1
p.P62delFs
c.185delC
2 papers
NM_182680.1
p.P62fs
c.184_185fs
1 paper
NM_182680.1
p.P62R
c.185C>G
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
1 paper
NM_182680.1
p.L48_V49Splc
c.145-1G>A
NM_001142.2
p.E34_V35Splc
c.103-1G>A
1 paper
NM_001142.2
p.E34_V35Splc
c.103-3A>C
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