Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.I74L

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
1 paper
NM_000239.3
p.I74L
c.220A>C
Surrounding Variants
2 papers
NM_000239.3
p.I74L
c.220A>T
1 paper
NM_000239.3
p.I74K
c.221T>A
8 papers
NM_000239.3
p.I74T
c.221T>C
1 paper
NM_000239.3
p.I74R
c.221T>G
1 paper
NM_000239.3
p.I74I
c.222A>C
1 paper
NM_000239.3
p.G73R
c.217G>A
2 papers
NM_000239.3
p.G73R
c.217G>C
6 papers
NM_000239.3
p.F75I
c.223T>A
2 papers
NM_000239.3
p.F75S
c.224T>C
1 paper
NM_000239.3
p.Y72S
c.215A>C
1 paper
NM_000239.3
p.Y72F
c.215A>T
6 papers
NM_000239.3
p.Y72N
c.214T>A
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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."