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
11 papers
NM_001143764.3
p.R125G
c.373A>G
Surrounding Variants
1 paper
NM_001143764.3
p.K126fs
c.376_377fs
2 papers
NM_001143764.3
p.E132D
c.396G>T
2 papers
NM_001143764.3
p.E132D
c.396G>C
1 paper
NM_001143764.3
p.C133R
c.397T>C
2 papers
NM_001143764.3
p.E135_R136del2
c.403_407del6
1 paper
NM_001143764.3
p.L140_N141del1
c.419_421delTCA
1 paper
NM_001143764.3
p.N141delFs
c.421delT
1 paper
NM_001143764.3
p.E147K
c.439G>A
1 paper
NM_001143764.3
p.R155K
c.464G>A
3 papers
NM_001143764.3
p.E159K
c.475G>A
1 paper
NM_001143764.3
p.Q161P
c.482A>C
1 paper
NM_130784.4
p.D128fs
c.382_383fs
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