Varaico: Literature-Extracted Genetic Variants

Gene:HYAL4
Variant:p.D453E

HYAL4

41 papers

RefSeq Summary

This gene encodes a protein which is similar in structure to hyaluronidases but lacks hyaluronidase activity. The encoded protein acts as a chondroitin-sulfate-specific endo-beta-N-acetylgalactosamini...

Pfam Domains

Glyco_hydro_56aa 37–450UCSCHyaluronidase

Gene Aliases

HGNC Name

hyaluronidase 4

HGNC Previous Name

hyaluronoglucosaminidase 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012269.3
p.D453E
c.1359T>G
Surrounding Variants
1 paper
NM_012269.3
p.D453E
c.1359T>A
2 papers
NM_012269.3
p.G454S
c.1360G>A
1 paper
NM_012269.3
p.M466I
c.1398G>A
1 paper
NM_012269.3
p.M466I
c.1398G>C
1 paper
NM_012269.3
p.M466I
c.1398G>T
2 papers
NM_012269.3
p.S434F
c.1301C>T
1 paper
NM_012269.3
p.I479S
c.1436T>G
1 paper
NM_012269.3
p.K418N
c.1254A>C
1 paper
NM_012269.3
p.K418N
c.1254A>T
1 paper
NM_012269.3
p.A409V
c.1226C>T
1 paper
NM_012269.3
p.E408D
c.1224G>C
1 paper
NM_012269.3
p.E408D
c.1224G>T
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