Varaico: Literature-Extracted Genetic Variants

Gene:HYAL3
Variant:p.R141H

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.R141H
c.422G>A
Surrounding Variants
1 paper
NM_003549.4
p.R142S
c.424C>A
1 paper
NM_003549.4
p.R143Q
c.428G>A
1 paper
NM_003549.4
p.W131C
c.393G>T
1 paper
NM_003549.4
p.W131C
c.393G>C
1 paper
NM_003549.4
p.E129K
c.385G>A
1 paper
NM_003549.4
p.A121P
c.361G>C
1 paper
NM_003549.4
p.S115T
c.344G>C
6 papers
NM_003549.4
p.H113Y
c.337C>T
5 papers
NM_003549.4
p.R178H
c.533G>A
1 paper
NM_003549.4
p.A188S
c.562G>T
1 paper
NM_003549.4
p.L196L
c.588C>T
1 paper
NM_003549.4
p.K75_P82ins2
c.225_245dup21
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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."