Varaico: Literature-Extracted Genetic Variants

Gene:SPESP1
Variant:p.S46R

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.S46R
c.136A>C
Surrounding Variants
1 paper
NM_145658.4
p.R45R
c.135A>T
1 paper
NM_145658.4
p.S46R
c.138T>A
1 paper
NM_145658.4
p.S46R
c.138T>G
1 paper
NM_145658.4
p.V44A
c.131T>C
1 paper
NM_145658.4
p.P48S
c.142C>T
1 paper
NM_145658.4
p.S49A
c.145T>G
1 paper
NM_145658.4
p.V39L
c.115G>C
1 paper
NM_145658.4
p.R54G
c.160C>G
1 paper
NM_145658.4
p.Q38*
c.112C>T
1 paper
NM_145658.4
p.R54delFs
c.161_162delGT
1 paper
NM_145658.4
p.K57E
c.169A>G
1 paper
NM_145658.4
p.S60F
c.179C>T
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