Varaico: Literature-Extracted Genetic Variants

Gene:AMELY
Variant:p.I67N

AMELY

19 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 a related gene on chro...

Pfam Domains

Amelogeninaa 21–206UCSCAmelogenin

Gene Aliases

HGNC Name

amelogenin Y-linked

HGNC Previous Symbol

AMGL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001143.2
p.I67N
c.200T>A
Surrounding Variants
2 papers
NM_001143.2
p.V70M
c.208G>A
1 paper
NM_001143.2
p.H64N
c.190C>A
1 paper
NM_001143.2
p.Q98H
c.294G>T
1 paper
NM_001143.2
p.Q98H
c.294G>C
2 papers
NM_001143.2
p.R166Q
c.497G>A
1 paper
NM_001143.2
p.I171fs
c.511_512fs
1 paper
NM_001143.2
p.P170delFs
c.510delG
1 paper
NM_001143.2
p.P49L
c.146C>T
1 paper
NM_001143.2
p.P26R
c.77C>G
1 paper
NM_001143.2
p.V191_D192Splc
c.574-1G>A
1 paper
NM_001143.2
p.P18delins
c.52_53delinsTG
1 paper
NM_001143.2
p.A8V
c.23C>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."