Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.R180W

HYAL1

80 papers

RefSeq Summary

This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in...

Pfam Domains

Glyco_hydro_56aa 22–433UCSCHyaluronidase

Gene Aliases

HGNC Name

hyaluronidase 1

HGNC Alias Symbols

LUCA1; HYAL-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033159.4
p.R180W
c.538C>T
Surrounding Variants
2 papers
NM_033159.4
p.R180Q
c.539G>A
1 paper
NM_033159.4
p.A179S
c.535G>T
1 paper
NM_033159.4
p.Q176*
c.526C>T
1 paper
NM_033159.4
p.R191W
c.571C>T
1 paper
NM_033159.4
p.V167M
c.499G>A
1 paper
NM_033159.4
p.R194C
c.580C>T
1 paper
NM_033159.4
p.R194H
c.581G>A
1 paper
NM_033159.4
p.A164V
c.491C>T
1 paper
NM_033159.4
p.R196fs
c.586_587fs
1 paper
NM_033159.4
p.R196H
c.587G>A
1 paper
NM_033159.4
p.G197S
c.589G>A
1 paper
NM_033159.4
p.W162*
c.486G>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."