Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.L171F

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.L171F
c.511C>T
Surrounding Variants
1 paper
NM_001142.2
p.D173delFs
c.517delG
3 papers
NM_182680.1
p.L181fs
c.541_542fs
1 paper
NM_001142.2
p.T175delFs
c.525delT
3 papers
NM_182680.1
p.L181delFs
c.541delC
4 papers
NM_182680.1
p.E191*
c.571G>T
1 paper
NM_001142.2
p.M164I
c.492G>C
1 paper
NM_001142.2
p.F162delFs
c.485delT
2 papers
NM_001142.2
p.S181delFs
c.541delT
2 papers
NM_182680.1
p.P173fs
c.517_518fs
3 papers
NM_182680.1
p.P173delFs
c.518delC
2 papers
NM_001142.2
p.L158delFs
c.473delT
1 paper
NM_001142.2
p.P154S
c.460C>T
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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."