Varaico: Literature-Extracted Genetic Variants

Gene:SPAM1

SPAM1

34 papers

RefSeq Summary

Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly l...

Pfam Domains

Glyco_hydro_56aa 38–448UCSCHyaluronidase

Gene Aliases

HGNC Name

sperm adhesion molecule 1

HGNC Alias Symbols

HYAL5; PH-20; SPAG15

Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
2 papers
NM_153189.3
p.L140fs
c.418_419fs
1 paper
NM_153189.3
p.F38L
c.112T>C
1 paper
NM_153189.3
p.F38L
c.114C>A
1 paper
NM_153189.3
p.F38L
c.114C>G
1 paper
NM_153189.3
p.V47A
c.140T>C
1 paper
NM_153189.3
p.L50I
c.148C>A
1 paper
NM_153189.3
p.A52D
c.155C>A
1 paper
NM_153189.3
p.G62E
c.185G>A
1 paper
NM_153189.3
p.T84N
c.251C>A
1 paper
NM_153189.3
p.Y98*
c.294C>A
1 paper
NM_153189.3
p.Y98*
c.294C>G
1 paper
NM_153189.3
p.K161N
c.483A>C
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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."