Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.V35delFs

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
5 papers
NM_033159.4
p.V35delFs
c.104delA
Surrounding Variants
1 paper
NM_033159.4
p.V35fs
c.103_104fs
1 paper
NM_033159.4
p.R30W
c.88C>T
1 paper
NM_033159.4
p.L27fs
c.79_80fs
1 paper
NM_033159.4
p.Q20_F22delFs
c.59_66del8
1 paper
NM_033159.4
p.F22L
c.66T>G
1 paper
NM_033159.4
p.F22L
c.66T>A
1 paper
NM_033159.4
p.F22L
c.64T>C
1 paper
NM_033159.4
p.D50D
c.150C>T
1 paper
NM_033159.4
p.Q20L
c.59A>T
1 paper
NM_033159.4
p.F12_A19insFs
c.34_56dup23
1 paper
NM_033159.4
p.D52G
c.155A>G
1 paper
NM_033159.4
p.D17H
c.49G>C
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