Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.W234S

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.W234S
c.701G>C
Surrounding Variants
1 paper
NM_033159.4
p.G233V
c.698G>T
1 paper
NM_033159.4
p.R240C
c.718C>T
1 paper
NM_033159.4
p.A227S
c.679G>T
3 papers
NM_033159.4
p.A227T
c.679G>A
2 papers
NM_033159.4
p.R226H
c.677G>A
2 papers
NM_033159.4
p.R226C
c.676C>T
1 paper
NM_033159.4
p.S245N
c.734G>A
1 paper
NM_033159.4
p.S245R
c.735C>G
2 papers
NM_033159.4
p.P249S
c.745C>T
1 paper
NM_033159.4
p.T218A
c.652A>G
1 paper
NM_033159.4
p.D211_S214del4
c.631_641del12
1 paper
NM_033159.4
p.S214delFs
c.641delC
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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."