Varaico: Literature-Extracted Genetic Variants

Gene:HYAL2
Variant:p.P296delFs

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
1 paper
NM_003773.5
p.P296delFs
c.888delG
Surrounding Variants
1 paper
NM_003773.5
p.P296S
c.886C>T
2 papers
NM_003773.5
p.R295*
c.883C>T
1 paper
NM_003773.5
p.R301G
c.901A>G
1 paper
NM_003773.5
p.Y291C
c.872A>G
2 papers
NM_003773.5
p.R280C
c.838C>T
2 papers
NM_003773.5
p.R277C
c.829C>T
1 paper
NM_003773.5
p.R271C
c.811C>T
1 paper
NM_003773.5
p.S261A
c.781T>G
8 papers
NM_003773.5
p.P250L
c.749C>T
2 papers
NM_003773.5
p.L238R
c.713T>G
2 papers
NM_003773.5
p.R234H
c.701G>A
1 paper
NM_003773.5
p.A233D
c.698C>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."