Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.C99Y

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
2 papers
NM_000239.3
p.C99Y
c.296G>A
Surrounding Variants
2 papers
NM_000239.3
p.C99S
c.296G>C
2 papers
NM_000239.3
p.C99S
c.295T>A
2 papers
NM_000239.3
p.S100G
c.298A>G
2 papers
NM_000239.3
p.S100C
c.298A>T
1 paper
NM_000239.3
p.S98S
c.294C>A
1 paper
NM_000239.3
p.S100N
c.299G>A
1 paper
NM_000239.3
p.S98P
c.292T>C
1 paper
NM_000239.3
p.S98A
c.292T>G
1 paper
NM_000239.3
p.A101V
c.302C>T
1 paper
NM_000239.3
p.L97*
c.290T>A
1 paper
NM_000239.3
p.H96P
c.287A>C
1 paper
NM_000239.3
p.C95S
c.284G>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."