Varaico: Literature-Extracted Genetic Variants

Gene:HYAL2
Variant:p.Y354C

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.Y354C
c.1061A>G
Surrounding Variants
3 papers
NM_003773.5
p.N357S
c.1070A>G
1 paper
NM_003773.5
p.T348I
c.1043C>T
1 paper
NM_003773.5
p.A361D
c.1082C>A
1 paper
NM_003773.5
p.K344R
c.1031A>G
1 paper
NM_003773.5
p.S366R
c.1096A>C
1 paper
NM_003773.5
p.S366R
c.1098C>G
1 paper
NM_003773.5
p.S366R
c.1098C>A
3 papers
NM_003773.5
p.R378C
c.1132C>T
1 paper
NM_003773.5
p.R378H
c.1133G>A
1 paper
NM_003773.5
p.H388N
c.1162C>A
1 paper
NM_003773.5
p.L389I
c.1165C>A
1 paper
NM_003773.5
p.P405L
c.1214C>T
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