Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.I113L

HYAL1

80 papers

RefSeq Summary

This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in...

Pfam Domains

Glyco_hydro_56aa 22–433UCSCHyaluronidase

Gene Aliases

HGNC Name

hyaluronidase 1

HGNC Alias Symbols

LUCA1; HYAL-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033159.4
p.I113L
c.337A>C
Surrounding Variants
2 papers
NM_033159.4
p.I113F
c.337A>T
1 paper
NM_033159.4
p.D112delFs
c.334delC
1 paper
NM_033159.4
p.F110Y
c.329T>A
1 paper
NM_033159.4
p.A115_A116insFs
c.345_348dup4
1 paper
NM_033159.4
p.R108H
c.323G>A
1 paper
NM_033159.4
p.I117fs
c.349_350fs
1 paper
NM_033159.4
p.R108C
c.322C>T
1 paper
NM_033159.4
p.P118H
c.353C>A
1 paper
NM_033159.4
p.D121V
c.362A>T
1 paper
NM_033159.4
p.A126A
c.378A>T
1 paper
NM_033159.4
p.Q98insFs
c.292_293insC
1 paper
NM_033159.4
p.I128I
c.384C>T
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