Varaico: Literature-Extracted Genetic Variants

Gene:SPESP1
Variant:p.S123L

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
1 paper
NM_145658.4
p.S123L
c.368C>T
Surrounding Variants
2 papers
NM_145658.4
p.I124V
c.370A>G
1 paper
NM_145658.4
p.P120insFs
c.360dupA
1 paper
NM_145658.4
p.V129F
c.385G>T
1 paper
NM_145658.4
p.T116M
c.347C>T
1 paper
NM_145658.4
p.L133F
c.399G>C
1 paper
NM_145658.4
p.L133F
c.399G>T
1 paper
NM_145658.4
p.A135T
c.403G>A
1 paper
NM_145658.4
p.A135insFs
c.404_405insC
1 paper
NM_145658.4
p.G111E
c.332G>A
1 paper
NM_145658.4
p.P138R
c.413C>G
1 paper
NM_145658.4
p.P108A
c.322C>G
1 paper
NM_145658.4
p.K154insFs
c.460dupA
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