Varaico: Literature-Extracted Genetic Variants

Gene:CRISP1
Variant:p.E43Q

CRISP1

196 papers

RefSeq Summary

Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction ...

Pfam Domains

CAPaa 45–175UCSCCysteine-rich secretory protein family
Crispaa 195–249UCSCCrisp

Gene Aliases

HGNC Name

cysteine rich secretory protein 1

HGNC Previous Symbol

AEGL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001131.3
p.E43Q
c.127G>C
Surrounding Variants
1 paper
NM_001131.3
p.E43V
c.128A>T
1 paper
NM_001131.3
p.E42K
c.124G>A
1 paper
NM_001131.3
p.L37F
c.111G>C
1 paper
NM_001131.3
p.A50A
c.150C>A
1 paper
NM_001131.3
p.T35A
c.103A>G
1 paper
NM_001131.3
p.V34F
c.100G>T
1 paper
NM_001131.3
p.V34L
c.100G>C
1 paper
NM_001131.3
p.V34I
c.100G>A
1 paper
NM_001131.3
p.L33H
c.98T>A
2 papers
NM_001131.3
p.R52R
c.156G>A
1 paper
NM_001131.3
p.R53K
c.158G>A
1 paper
NM_001131.3
p.V55L
c.163G>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."