Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.L12R

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.L12R
c.35T>G
Surrounding Variants
6 papers
NM_000239.3
p.L12H
c.35T>A
2 papers
NM_000239.3
p.L12P
c.35T>C
1 paper
NM_000239.3
p.L12V
c.34C>G
1 paper
NM_000239.3
p.S13T
c.37T>A
2 papers
NM_000239.3
p.S13Y
c.38C>A
1 paper
NM_000239.3
p.L11H
c.32T>A
2 papers
NM_000239.3
p.L11P
c.32T>C
1 paper
NM_000239.3
p.L11I
c.31C>A
1 paper
NM_000239.3
p.L11F
c.31C>T
5 papers
NM_000239.3
p.V10V
c.30C>A
4 papers
NM_000239.3
p.V14I
c.40G>A
1 paper
NM_000239.3
p.V14L
c.40G>C
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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."