Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.E430D

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.E430D
c.1290G>T
Surrounding Variants
1 paper
NM_033159.4
p.E430D
c.1290G>C
1 paper
NM_033159.4
p.R431W
c.1291C>T
1 paper
NM_033159.4
p.E430A
c.1289A>C
1 paper
NM_033159.4
p.C429insFs
c.1285_1286insT
1 paper
NM_033159.4
p.S433I
c.1298G>T
1 paper
NM_033159.4
p.W424insFs
c.1271dupG
1 paper
NM_033159.4
p.C418Y
c.1253G>A
1 paper
NM_033159.4
p.A413T
c.1237G>A
2 papers
NM_033159.4
p.R401W
c.1201C>T
1 paper
NM_033159.4
p.P393A
c.1177C>G
4 papers
NM_033159.4
p.T392M
c.1175C>T
1 paper
NM_033159.4
p.L382F
c.1144C>T
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