Varaico: Literature-Extracted Genetic Variants

Gene:HYAL4
Variant:p.L4F

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.L4F
c.12A>C
Surrounding Variants
1 paper
NM_012269.3
p.L4F
c.12A>T
1 paper
NM_012269.3
p.F27insFs
c.81dupT
1 paper
NM_012269.3
p.R39*
c.115C>T
1 paper
NM_012269.3
p.R39Q
c.116G>A
1 paper
NM_012269.3
p.L79V
c.235C>G
1 paper
NM_012269.3
p.G140R
c.418G>A
1 paper
NM_012269.3
p.G140R
c.418G>C
2 papers
NM_012269.3
p.D145G
c.434A>G
1 paper
NM_012269.3
p.E147Q
c.439G>C
1 paper
NM_012269.3
p.T202N
c.605C>A
1 paper
NM_012269.3
p.R210*
c.628C>T
1 paper
NM_012269.3
p.P211H
c.632C>A
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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."