Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.R194H

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.R194H
c.581G>A
Surrounding Variants
1 paper
NM_033159.4
p.R194C
c.580C>T
1 paper
NM_033159.4
p.R196fs
c.586_587fs
1 paper
NM_033159.4
p.R196H
c.587G>A
1 paper
NM_033159.4
p.G197S
c.589G>A
1 paper
NM_033159.4
p.R191W
c.571C>T
1 paper
NM_033159.4
p.R196_G200delFs
c.586_598del13
2 papers
NM_033159.4
p.Y202C
c.605A>G
1 paper
NM_033159.4
p.F204L
c.610T>C
1 paper
NM_033159.4
p.F204L
c.612C>G
1 paper
NM_033159.4
p.F204L
c.612C>A
1 paper
NM_033159.4
p.C207C
c.621C>T
2 papers
NM_033159.4
p.R180Q
c.539G>A
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