Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.D50D

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.D50D
c.150C>T
Surrounding Variants
1 paper
NM_033159.4
p.D52G
c.155A>G
1 paper
NM_033159.4
p.S54N
c.161G>A
1 paper
NM_033159.4
p.S54R
c.162T>A
5 papers
NM_033159.4
p.V35delFs
c.104delA
1 paper
NM_033159.4
p.V35fs
c.103_104fs
1 paper
NM_033159.4
p.G68D
c.203G>A
1 paper
NM_033159.4
p.R30W
c.88C>T
1 paper
NM_033159.4
p.M71_T72delFs
c.211_214del4
1 paper
NM_033159.4
p.I73N
c.218T>A
1 paper
NM_033159.4
p.L27fs
c.79_80fs
1 paper
NM_033159.4
p.F74fs
c.220_221fs
1 paper
NM_033159.4
p.F74insFs
c.221dupT
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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."