Varaico: Literature-Extracted Genetic Variants

Gene:LYZ

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
1–12 of 494 variants
69 papers
NM_000239.3
p.D67H
c.199G>C
31 papers
NM_000239.3
p.T70N
c.209C>A
25 papers
NM_000239.3
p.G18G
c.54C>T
14 papers
NM_000239.3
p.T88N
c.263C>A
12 papers
NM_000239.3
p.W82R
c.244T>C
11 papers
NM_000239.3
p.W82R
c.244T>A
8 papers
NM_000239.3
p.I74T
c.221T>C
8 papers
NM_000239.3
p.D85H
c.253G>C
7 papers
NM_000239.3
p.E22G
c.65A>G
7 papers
NM_000239.3
p.Y63F
c.188A>T
6 papers
NM_000239.3
p.L12H
c.35T>A
6 papers
NM_000239.3
p.G37R
c.109G>C
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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."