Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.L4H

LYZ

1,207 papers

RefSeq Summary

This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lys...

Pfam Domains

Lysaa 19–146UCSCC-type lysozyme/alpha-lactalbumin family

Gene Aliases

HGNC Name

lysozyme

HGNC Previous Name

lysozyme (renal amyloidosis)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000239.3
p.L4H
c.11T>A
Surrounding Variants
1 paper
NM_000239.3
p.L4R
c.11T>G
1 paper
NM_000239.3
p.L4I
c.10C>A
1 paper
NM_000239.3
p.L4L
c.12C>A
2 papers
NM_000239.3
p.L4L
c.12C>G
2 papers
NM_000239.3
p.I5V
c.13A>G
1 paper
NM_000239.3
p.A3A
c.9T>A
1 paper
NM_000239.3
p.A3A
c.9T>G
1 paper
NM_000239.3
p.A3G
c.8C>G
5 papers
NM_000239.3
p.I5N
c.14T>A
3 papers
NM_000239.3
p.A3T
c.7G>A
2 papers
NM_000239.3
p.I5I
c.15T>A
1 paper
NM_000239.3
p.I5M
c.15T>G
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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."