Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.M341insFs

ENAM

173 papers

RefSeq Summary

Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in...

Pfam Domains

Enamelinaa 213–1114UCSCEnamelin

Gene Aliases

HGNC Name

enamelin

HGNC Previous Symbol

AIH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_031889.3
p.M341insFs
c.1021_1022ins10
Surrounding Variants
1 paper
NM_031889.3
p.M341ins7
c.1021_1022ins21
1 paper
NM_031889.3
p.V340_M341insFs
c.1020_1021ins5
1 paper
NM_031889.3
p.M341insFs
c.1021_1022ins5
1 paper
NM_031889.3
p.M341ins7
c.1021_1022ins21
1 paper
NM_031889.3
p.P329fs
c.985_986fs
1 paper
NM_031889.3
p.Q356H
c.1068A>C
1 paper
NM_031889.3
p.Q356H
c.1068A>T
1 paper
NM_031889.3
p.G358S
c.1072G>A
1 paper
NM_031889.3
p.G358C
c.1072G>T
2 papers
NM_031889.3
p.W361*
c.1082G>A
2 papers
NM_031889.3
p.W361*
c.1083G>A
1 paper
NM_031889.3
p.A365delFs
c.1093delG
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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."