Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1

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
1–12 of 152 variants
9 papers
NM_033159.4
p.E268K
c.802G>A
5 papers
NM_033159.4
p.V35delFs
c.104delA
4 papers
NM_033159.4
p.G256R
c.766G>C
4 papers
NM_033159.4
p.G256R
c.766G>A
4 papers
NM_033159.4
p.T392M
c.1175C>T
3 papers
NM_033159.4
p.R152W
c.454C>T
3 papers
NM_033159.4
p.A227T
c.679G>A
3 papers
NM_033159.4
p.A267V
c.800C>T
3 papers
NM_033159.4
p.V283L
c.847G>T
3 papers
NM_033159.4
p.V283L
c.847G>C
2 papers
NM_033159.4
p.I113F
c.337A>T
2 papers
NM_033159.4
p.R180Q
c.539G>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."