Varaico: Literature-Extracted Genetic Variants

Gene:CRISP1
Variant:p.N186D

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
1 paper
NM_001131.3
p.N186D
c.556A>G
Surrounding Variants
1 paper
NM_001131.3
p.N186H
c.556A>C
1 paper
NM_001131.3
p.E187K
c.559G>A
1 paper
NM_001131.3
p.E187A
c.560A>C
1 paper
NM_001131.3
p.Y189*
c.567T>G
1 paper
NM_001131.3
p.Y189*
c.567T>A
1 paper
NM_001131.3
p.E178Splc
c.534-2A>G
1 paper
NM_001131.3
p.A197T
c.589G>A
1 paper
NM_001131.3
p.C202S
c.604T>A
1 paper
NM_001131.3
p.C202S
c.605G>C
1 paper
NM_001131.3
p.L206V
c.616C>G
1 paper
NM_001131.3
p.T208Splc
c.622+120C>G
1 paper
NM_001131.3
p.Y175H
c.523T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."