Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.Q98insFs

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.Q98insFs
c.292_293insC
Surrounding Variants
1 paper
NM_033159.4
p.G94V
c.281G>T
1 paper
NM_033159.4
p.E90D
c.270G>T
1 paper
NM_033159.4
p.E90D
c.270G>C
1 paper
NM_033159.4
p.R108C
c.322C>T
1 paper
NM_033159.4
p.R108H
c.323G>A
1 paper
NM_033159.4
p.F110Y
c.329T>A
1 paper
NM_033159.4
p.Y85D
c.253T>G
1 paper
NM_033159.4
p.D112delFs
c.334delC
2 papers
NM_033159.4
p.I113F
c.337A>T
1 paper
NM_033159.4
p.I113L
c.337A>C
1 paper
NM_033159.4
p.Y82*
c.246C>G
1 paper
NM_033159.4
p.A115_A116insFs
c.345_348dup4
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."