Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.F74insFs

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.F74insFs
c.221dupT
Surrounding Variants
1 paper
NM_033159.4
p.F74delFs
c.221delA
1 paper
NM_033159.4
p.Y75fs
c.223_224fs
1 paper
NM_033159.4
p.F74fs
c.220_221fs
1 paper
NM_033159.4
p.I73N
c.218T>A
1 paper
NM_033159.4
p.M71_T72delFs
c.211_214del4
1 paper
NM_033159.4
p.Q78R
c.233A>G
1 paper
NM_033159.4
p.G68D
c.203G>A
1 paper
NM_033159.4
p.Y82*
c.246C>G
1 paper
NM_033159.4
p.Y85D
c.253T>G
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.G94V
c.281G>T
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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."