Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.L300fs

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.L300fs
c.898_899fs
Surrounding Variants
2 papers
NM_033159.4
p.L300delFs
c.898delG
1 paper
NM_033159.4
p.L300delFs
c.899delA
1 paper
NM_033159.4
p.L300_D301Splc
c.900+1G>A
1 paper
NM_033159.4
p.Y291C
c.872A>G
1 paper
NM_033159.4
p.Y291_D292insC
c.871_875ins3
1 paper
NM_033159.4
p.F290S
c.869T>C
3 papers
NM_033159.4
p.V283L
c.847G>T
3 papers
NM_033159.4
p.V283L
c.847G>C
1 paper
NM_033159.4
p.P279R
c.836C>G
1 paper
NM_033159.4
p.A273delFs
c.817_818delGC
9 papers
NM_033159.4
p.E268K
c.802G>A
3 papers
NM_033159.4
p.A267V
c.800C>T
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