Varaico: Literature-Extracted Genetic Variants

Gene:HYAL3
Variant:p.I245M

HYAL3

43 papers

RefSeq Summary

This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulat...

Pfam Domains

Glyco_hydro_56aa 20–410UCSCHyaluronidase

Gene Aliases

HGNC Name

hyaluronidase 3

HGNC Alias Symbols

LUCA-3; LUCA14; Minna14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003549.4
p.I245M
c.735C>G
Surrounding Variants
1 paper
NM_003549.4
p.S244G
c.730A>G
1 paper
NM_003549.4
p.A258T
c.772G>A
1 paper
NM_003549.4
p.A226V
c.677C>T
1 paper
NM_003549.4
p.E266*
c.796G>T
1 paper
NM_003549.4
p.A222V
c.665C>T
1 paper
NM_003549.4
p.L279V
c.835C>G
1 paper
NM_003549.4
p.L287F
c.859C>T
1 paper
NM_003549.4
p.Y202*
c.606C>G
1 paper
NM_003549.4
p.Y202*
c.606C>A
1 paper
NM_003549.4
p.Y200C
c.599A>G
1 paper
NM_003549.4
p.L196L
c.588C>T
1 paper
NM_003549.4
p.Q298R
c.893A>G
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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."