Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.L30P

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.L30P
c.89T>C
Surrounding Variants
2 papers
NM_000239.3
p.L30L
c.90G>A
1 paper
NM_000239.3
p.L30L
c.90G>C
1 paper
NM_000239.3
p.K31Q
c.91A>C
1 paper
NM_000239.3
p.K31*
c.91A>T
1 paper
NM_000239.3
p.T29S
c.86C>G
3 papers
NM_000239.3
p.T29I
c.86C>T
1 paper
NM_000239.3
p.T29P
c.85A>C
1 paper
NM_000239.3
p.K31N
c.93A>C
3 papers
NM_000239.3
p.T29A
c.85A>G
2 papers
NM_000239.3
p.K31N
c.93A>T
1 paper
NM_000239.3
p.T29S
c.85A>T
1 paper
NM_000239.3
p.R28R
c.84A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."