Varaico: Literature-Extracted Genetic Variants

Gene:SPAM1
Variant:p.K290E

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
Selected Variant
1 paper
NM_153189.3
p.K290E
c.868A>G
Surrounding Variants
1 paper
NM_153189.3
p.R283W
c.847C>T
1 paper
NM_153189.3
p.L298F
c.892C>T
1 paper
NM_153189.3
p.R305H
c.914G>A
1 paper
NM_153189.3
p.R305R
c.915C>T
1 paper
NM_153189.3
p.D310N
c.928G>A
1 paper
NM_153189.3
p.T267S
c.800C>G
1 paper
NM_153189.3
p.T267S
c.799A>T
1 paper
NM_153189.3
p.W216S
c.647G>C
1 paper
NM_153189.3
p.H214Y
c.640C>T
1 paper
NM_153189.3
p.K194K
c.582G>A
1 paper
NM_153189.3
p.L181P
c.542T>C
1 paper
NM_153189.3
p.L179V
c.535C>G
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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."