Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.E22A

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.E22A
c.65A>C
Surrounding Variants
7 papers
NM_000239.3
p.E22G
c.65A>G
5 papers
NM_000239.3
p.E22K
c.64G>A
4 papers
NM_000239.3
p.E22Q
c.64G>C
1 paper
NM_000239.3
p.E22*
c.64G>T
1 paper
NM_000239.3
p.R23R
c.67A>C
1 paper
NM_000239.3
p.R23G
c.67A>G
1 paper
NM_000239.3
p.R23W
c.67A>T
1 paper
NM_000239.3
p.F21L
c.63T>A
1 paper
NM_000239.3
p.F21F
c.63T>C
1 paper
NM_000239.3
p.F21L
c.63T>G
1 paper
NM_000239.3
p.E22_C24delFs
c.64_71del8
4 papers
NM_000239.3
p.R23K
c.68G>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."