Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.R28R

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.R28R
c.84A>G
Surrounding Variants
1 paper
NM_000239.3
p.T29P
c.85A>C
3 papers
NM_000239.3
p.T29A
c.85A>G
1 paper
NM_000239.3
p.T29S
c.85A>T
1 paper
NM_000239.3
p.R28K
c.83G>A
1 paper
NM_000239.3
p.R28*
c.82A>T
1 paper
NM_000239.3
p.T29S
c.86C>G
3 papers
NM_000239.3
p.T29I
c.86C>T
3 papers
NM_000239.3
p.A27A
c.81C>A
1 paper
NM_000239.3
p.A27A
c.81C>T
5 papers
NM_000239.3
p.A27D
c.80C>A
1 paper
NM_000239.3
p.A27V
c.80C>T
1 paper
NM_000239.3
p.A27T
c.79G>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."