Varaico: Literature-Extracted Genetic Variants

Gene:SYCE1
Variant:p.R125G

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.R125G
c.373A>G
Surrounding Variants
1 paper
NM_001143764.3
p.H124_R125delFs
c.370_373del4
1 paper
NM_001143764.3
p.S121_E122ins1
c.363_364insACA
2 papers
NM_001143764.3
p.E120K
c.358G>A
1 paper
NM_001143764.3
p.Q117*
c.349C>T
1 paper
NM_001143764.3
p.L109Fs
c.326delinsGGAAGGTGAGCTATTGTFs
1 paper
NM_001143764.3
p.K104_Q106Fs
c.312_317delinsAGFs
1 paper
NM_001143764.3
p.Q106fs
c.316_317fs
1 paper
NM_001143764.3
p.L98_K99del1
c.293_295delTCA
1 paper
NM_001143764.3
p.H97insFs
c.291dupC
1 paper
NM_001143764.3
p.H97delFs
c.289_290delTG
1 paper
NM_001143764.3
p.V96L
c.286G>T
1 paper
NM_001143764.3
p.V96L
c.286G>C
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