Varaico: Literature-Extracted Genetic Variants

Gene:SYCE1
Variant:p.K183R

SYCE1

93 papers

RefSeq Summary

This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. ...

Pfam Domains

SYCE1aa 47–198UCSCSynaptonemal complex central element protein 1

Gene Aliases

HGNC Name

synaptonemal complex central element protein 1

HGNC Previous Symbol

C10orf94

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001143764.3
p.K183R
c.548A>G
Surrounding Variants
1 paper
NM_001143764.3
p.E184Q
c.550G>C
1 paper
NM_130784.4
p.L145_E148del0
c.434_442del9
1 paper
NM_001143764.3
p.E184del1
c.550_551delCTC
2 papers
NM_130784.4
p.R144W
c.430C>T
NM_001143764.3
p.R180W
c.538C>T
1 paper
NM_001143764.3
p.M177fs
c.529_530fs
1 paper
NM_001143764.3
p.M177delFs
c.529delT
1 paper
NM_001143764.3
p.L196fs
c.586_587fs
1 paper
NM_001143764.3
p.L195delFs
c.585delC
1 paper
NM_001143764.3
p.E199V
c.596A>T
1 paper
NM_001143764.3
p.V202L
c.604G>C
1 paper
NM_001143764.3
p.A204_T205del2
c.610_614del6
1 paper
NM_001143764.3
p.H211Y
c.631C>T
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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."