Varaico: Literature-Extracted Genetic Variants

Gene:LYVE1
Variant:p.E279K

LYVE1

34 papers

RefSeq Summary

This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyalurona...

Pfam Domains

Xlinkaa 40–129UCSCExtracellular link domain

Gene Aliases

HGNC Name

lymphatic vessel endothelial hyaluronan receptor 1

HGNC Previous Symbol

XLKD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006691.4
p.E279K
c.835G>A
Surrounding Variants
1 paper
NM_006691.4
p.D290delFs
c.868delC
1 paper
NM_006691.4
p.K264K
c.792G>A
1 paper
NM_006691.4
p.T300A
c.898A>G
1 paper
NM_006691.4
p.F256I
c.766T>A
1 paper
NM_006691.4
p.G253S
c.757G>A
1 paper
NM_006691.4
p.G249S
c.745G>A
1 paper
NM_006691.4
p.T238M
c.713C>T
1 paper
NM_006691.4
p.G235Splc
c.703+42C>A
1 paper
NM_006691.4
p.F233C
c.698T>G
1 paper
NM_006691.4
p.K198delFs
c.594delT
1 paper
NM_006691.4
p.P186del1
c.556_558delAGG
1 paper
NM_006691.4
p.P185T
c.553C>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."