Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.V16insFs

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.V16insFs
c.46_47insC
Surrounding Variants
1 paper
NM_000239.3
p.V16I
c.46G>A
1 paper
NM_000239.3
p.T15T
c.45G>A
2 papers
NM_000239.3
p.T15T
c.45G>C
3 papers
NM_000239.3
p.V16A
c.47T>C
2 papers
NM_000239.3
p.T15A
c.43A>G
1 paper
NM_000239.3
p.T15S
c.43A>T
1 paper
NM_000239.3
p.Q17P
c.50A>C
2 papers
NM_000239.3
p.Q17R
c.50A>G
2 papers
NM_000239.3
p.Q17L
c.50A>T
1 paper
NM_000239.3
p.V14V
c.42T>A
2 papers
NM_000239.3
p.V14A
c.41T>C
4 papers
NM_000239.3
p.V14I
c.40G>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."