Varaico: Literature-Extracted Genetic Variants

Gene:SPESP1
Variant:p.H217Y

SPESP1

108 papers

RefSeq Summary

The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010].

Pfam Domains

SPESP1aa 20–338UCSCSperm equatorial segment protein 1

Gene Aliases

HGNC Name

sperm equatorial segment protein 1

HGNC Alias Symbol

SP-ESP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_145658.4
p.H217Y
c.649C>T
Surrounding Variants
1 paper
NM_145658.4
p.K216_N223delFs
c.647_668del22
1 paper
NM_145658.4
p.E219Q
c.655G>C
1 paper
NM_145658.4
p.L227fs
c.679_680fs
1 paper
NM_145658.4
p.T206S
c.617C>G
1 paper
NM_145658.4
p.K228insFs
c.682dupA
1 paper
NM_145658.4
p.S235S
c.705A>T
1 paper
NM_145658.4
p.Q236_V237insFs
c.708_709insC
1 paper
NM_145658.4
p.V237M
c.709G>A
1 paper
NM_145658.4
p.S196L
c.587C>T
1 paper
NM_145658.4
p.E195K
c.583G>A
2 papers
NM_145658.4
p.G191E
c.572G>A
1 paper
NM_145658.4
p.N247I
c.740A>T
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