Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.Q17R

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
2 papers
NM_000239.3
p.Q17R
c.50A>G
Surrounding Variants
1 paper
NM_000239.3
p.Q17P
c.50A>C
2 papers
NM_000239.3
p.Q17L
c.50A>T
2 papers
NM_000239.3
p.G18S
c.52G>A
2 papers
NM_000239.3
p.G18D
c.53G>A
2 papers
NM_000239.3
p.G18V
c.53G>T
3 papers
NM_000239.3
p.V16A
c.47T>C
3 papers
NM_000239.3
p.G18G
c.54C>A
1 paper
NM_000239.3
p.G18G
c.54C>G
25 papers
NM_000239.3
p.G18G
c.54C>T
1 paper
NM_000239.3
p.V16I
c.46G>A
1 paper
NM_000239.3
p.V16insFs
c.46_47insC
1 paper
NM_000239.3
p.K19Q
c.55A>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."