Varaico: Literature-Extracted Genetic Variants

Gene:HYAL4
Variant:p.S261A

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.S261A
c.781T>G
Surrounding Variants
1 paper
NM_012269.3
p.S261S
c.783T>C
1 paper
NM_012269.3
p.I262V
c.784A>G
1 paper
NM_012269.3
p.G263S
c.787G>A
1 paper
NM_012269.3
p.V264I
c.790G>A
1 paper
NM_012269.3
p.W265R
c.793T>A
1 paper
NM_012269.3
p.W265R
c.793T>C
1 paper
NM_012269.3
p.S267F
c.800C>T
1 paper
NM_012269.3
p.L268F
c.802C>T
1 paper
NM_012269.3
p.N253K
c.759C>A
1 paper
NM_012269.3
p.N253K
c.759C>G
1 paper
NM_012269.3
p.G269A
c.806G>C
1 paper
NM_012269.3
p.F277V
c.829T>G
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