Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.G40R

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.G40R
c.118G>A
Surrounding Variants
1 paper
NM_000239.3
p.R39R
c.117G>A
1 paper
NM_000239.3
p.G40E
c.119G>A
2 papers
NM_000239.3
p.G40A
c.119G>C
1 paper
NM_000239.3
p.R39K
c.116G>A
1 paper
NM_000239.3
p.R39R
c.115A>C
1 paper
NM_000239.3
p.I41F
c.121A>T
1 paper
NM_000239.3
p.Y38S
c.113A>C
5 papers
NM_000239.3
p.Y38F
c.113A>T
1 paper
NM_000239.3
p.I41I
c.123C>A
1 paper
NM_000239.3
p.I41M
c.123C>G
3 papers
NM_000239.3
p.S42G
c.124A>G
1 paper
NM_000239.3
p.Y38N
c.112T>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."