Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.T218A

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.T218A
c.652A>G
Surrounding Variants
1 paper
NM_033159.4
p.D211_S214del4
c.631_641del12
1 paper
NM_033159.4
p.S214delFs
c.641delC
1 paper
NM_033159.4
p.L213V
c.637C>G
1 paper
NM_033159.4
p.D211D
c.633C>T
2 papers
NM_033159.4
p.R226C
c.676C>T
2 papers
NM_033159.4
p.R226H
c.677G>A
1 paper
NM_033159.4
p.A227S
c.679G>T
3 papers
NM_033159.4
p.A227T
c.679G>A
1 paper
NM_033159.4
p.C207C
c.621C>T
1 paper
NM_033159.4
p.F204L
c.612C>G
1 paper
NM_033159.4
p.F204L
c.612C>A
1 paper
NM_033159.4
p.F204L
c.610T>C
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