Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.L6fs

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.L6fs
c.16_17fs
Surrounding Variants
1 paper
NM_001142.2
p.L6delFs
c.17delT
6 papers
NM_001142.2
p.I5_A8del0
c.14_22del9
14 papers
NM_001142.2
p.W4*
c.12G>A
6 papers
NM_001142.2
p.W4C
c.12G>C
11 papers
NM_001142.2
p.W4*
c.11G>A
21 papers
NM_001142.2
p.W4S
c.11G>C
1 paper
NM_001142.2
p.I5_A8delFs
c.13_22del10
1 paper
NM_001142.2
p.A8V
c.23C>T
1 paper
NM_001142.2
p.T3Fs
c.7delinsTGGTCFs
1 paper
NM_001142.2
p.L10P
c.29T>C
19 papers
NM_001142.2
p.M1T
c.2T>C
3 papers
NM_001142.2
p.G12R
c.34G>A
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