Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.E53Q

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.E53Q
c.157G>C
Surrounding Variants
1 paper
NM_000239.3
p.E53A
c.158A>C
1 paper
NM_000239.3
p.E53G
c.158A>G
2 papers
NM_000239.3
p.W52*
c.156G>A
1 paper
NM_000239.3
p.W52*
c.155G>A
1 paper
NM_000239.3
p.E53E
c.159G>A
1 paper
NM_000239.3
p.W52S
c.155G>C
1 paper
NM_000239.3
p.E53D
c.159G>C
1 paper
NM_000239.3
p.E53D
c.159G>T
4 papers
NM_000239.3
p.S54C
c.160A>T
1 paper
NM_000239.3
p.W52R
c.154T>A
1 paper
NM_000239.3
p.S54N
c.161G>A
1 paper
NM_000239.3
p.K51R
c.152A>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."