Varaico: Literature-Extracted Genetic Variants

Gene:HYAL2
Variant:p.S65*

HYAL2

54 papers

RefSeq Summary

This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglyc...

Pfam Domains

Glyco_hydro_56aa 25–442UCSCHyaluronidase

Gene Aliases

HGNC Name

hyaluronidase 2

HGNC Alias Symbols

LuCa-2; LUCA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003773.5
p.S65*
c.194C>A
Surrounding Variants
2 papers
NM_003773.5
p.S65*
c.194C>G
2 papers
NM_003773.5
p.A64T
c.190G>A
1 paper
NM_003773.5
p.G69D
c.206G>A
1 paper
NM_003773.5
p.F60L
c.180T>A
1 paper
NM_003773.5
p.P101S
c.301C>T
1 paper
NM_003773.5
p.A20fs
c.58_59fs
1 paper
NM_003773.5
p.A20delFs
c.58delC
9 papers
NM_003773.5
p.S18A
c.52T>G
1 paper
NM_003773.5
p.D136N
c.406G>A
1 paper
NM_003773.5
p.R143C
c.427C>T
3 papers
NM_003773.5
p.K148R
c.443A>G
1 paper
NM_003773.5
p.H163P
c.488A>C
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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."