Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.R148P

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.R148P
c.443G>C
Surrounding Variants
1 paper
NM_033159.4
p.S151*
c.452C>G
1 paper
NM_033159.4
p.S151*
c.452C>A
3 papers
NM_033159.4
p.R152W
c.454C>T
1 paper
NM_033159.4
p.A153T
c.457G>A
1 paper
NM_033159.4
p.N140S
c.419A>G
1 paper
NM_033159.4
p.A138T
c.412G>A
1 paper
NM_033159.4
p.R136C
c.406C>T
1 paper
NM_033159.4
p.D161N
c.481G>A
1 paper
NM_033159.4
p.W162*
c.485G>A
1 paper
NM_033159.4
p.W162*
c.486G>A
1 paper
NM_033159.4
p.A164V
c.491C>T
1 paper
NM_033159.4
p.A132E
c.395C>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."