Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.C48S

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
5 papers
NM_000239.3
p.C48S
c.142T>A
Surrounding Variants
2 papers
NM_000239.3
p.C48R
c.142T>C
3 papers
NM_000239.3
p.M47I
c.141G>A
1 paper
NM_000239.3
p.M47L
c.139A>C
1 paper
NM_000239.3
p.M47L
c.139A>T
1 paper
NM_000239.3
p.W46*
c.138G>A
3 papers
NM_000239.3
p.W46*
c.137G>A
3 papers
NM_000239.3
p.L49F
c.147G>C
3 papers
NM_000239.3
p.L49F
c.147G>T
1 paper
NM_000239.3
p.W46L
c.137G>T
1 paper
NM_000239.3
p.A50S
c.148G>T
2 papers
NM_000239.3
p.A50G
c.149C>G
1 paper
NM_000239.3
p.A50A
c.150C>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."