Varaico: Literature-Extracted Genetic Variants

Gene:HYAL2
Variant:p.Q406*

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.Q406*
c.1216C>T
Surrounding Variants
1 paper
NM_003773.5
p.P405L
c.1214C>T
2 papers
NM_003773.5
p.I418L
c.1252A>C
1 paper
NM_003773.5
p.I418S
c.1253T>G
1 paper
NM_003773.5
p.L389I
c.1165C>A
1 paper
NM_003773.5
p.H388N
c.1162C>A
2 papers
NM_003773.5
p.H424fs
c.1270_1271fs
1 paper
NM_003773.5
p.H424R
c.1271A>G
2 papers
NM_003773.5
p.F425V
c.1273T>G
1 paper
NM_003773.5
p.H424delFs
c.1271_1272delGT
1 paper
NM_003773.5
p.R378H
c.1133G>A
3 papers
NM_003773.5
p.R378C
c.1132C>T
1 paper
NM_003773.5
p.W440R
c.1318T>C
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