Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.S69C

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
3 papers
NM_000239.3
p.S69C
c.205A>T
Surrounding Variants
3 papers
NM_000239.3
p.R68S
c.204A>C
3 papers
NM_000239.3
p.R68S
c.204A>T
1 paper
NM_000239.3
p.S69R
c.207C>A
2 papers
NM_000239.3
p.R68K
c.203G>A
1 paper
NM_000239.3
p.R68I
c.203G>T
3 papers
NM_000239.3
p.T70A
c.208A>G
1 paper
NM_000239.3
p.R68G
c.202A>G
1 paper
NM_000239.3
p.R68*
c.202A>T
1 paper
NM_000239.3
p.T70S
c.208A>T
31 papers
NM_000239.3
p.T70N
c.209C>A
1 paper
NM_000239.3
p.T70S
c.209C>G
5 papers
NM_000239.3
p.D67G
c.200A>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."