Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.R265C

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.R265C
c.793C>T
Surrounding Variants
3 papers
NM_033159.4
p.A267V
c.800C>T
9 papers
NM_033159.4
p.E268K
c.802G>A
1 paper
NM_033159.4
p.Q259H
c.777G>T
1 paper
NM_033159.4
p.Q259H
c.777G>C
1 paper
NM_033159.4
p.A273delFs
c.817_818delGC
4 papers
NM_033159.4
p.G256R
c.766G>C
4 papers
NM_033159.4
p.G256R
c.766G>A
1 paper
NM_033159.4
p.P279R
c.836C>G
2 papers
NM_033159.4
p.P249S
c.745C>T
3 papers
NM_033159.4
p.V283L
c.847G>T
3 papers
NM_033159.4
p.V283L
c.847G>C
1 paper
NM_033159.4
p.S245R
c.735C>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."