Varaico: Literature-Extracted Genetic Variants

Gene:HYAL2

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
1–12 of 56 variants
9 papers
NM_003773.5
p.S18A
c.52T>G
8 papers
NM_003773.5
p.P250L
c.749C>T
3 papers
NM_003773.5
p.K148R
c.443A>G
3 papers
NM_003773.5
p.N357S
c.1070A>G
3 papers
NM_003773.5
p.R378C
c.1132C>T
2 papers
NM_003773.5
p.A64T
c.190G>A
2 papers
NM_003773.5
p.S65*
c.194C>G
2 papers
NM_003773.5
p.S65*
c.194C>A
2 papers
NM_003773.5
p.G204A
c.611G>C
2 papers
NM_003773.5
p.R234H
c.701G>A
2 papers
NM_003773.5
p.L238R
c.713T>G
2 papers
NM_003773.5
p.R277C
c.829C>T
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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."