Varaico: Literature-Extracted Genetic Variants

Gene:SPO11
Variant:p.N193K

SPO11

67 papers

RefSeq Summary

Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalen...

Pfam Domains

SPO11_likeaa 2–44UCSCSPO11 homologue
TP6A_Naa 109–170UCSCType IIB DNA topoisomerase
TOP6A-Spo11_Toprimaa 219–390UCSCTopoisomerase 6 subunit A/Spo11, Toprim domain

Gene Aliases

HGNC Name

SPO11 initiator of meiotic double strand breaks

HGNC Alias Symbols

CT35; SPATA43; TOPVIA; TOPOVIA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012444.3
p.N193K
c.579T>G
Surrounding Variants
1 paper
NM_012444.3
p.N193K
c.579T>A
1 paper
NM_012444.3
p.T199_A200Splc
c.597+1G>T
5 papers
NM_012444.3
p.E186K
c.556G>A
1 paper
NM_012444.3
p.R183K
c.548G>A
3 papers
NM_012444.3
p.R183G
c.547A>G
1 paper
NM_012444.3
p.G176C
c.526G>T
1 paper
NM_012444.3
p.G176_L177delFs
c.526_529del4
1 paper
NM_012444.3
p.P204S
c.610C>T
1 paper
NM_012444.3
p.S205L
c.614C>T
1 paper
NM_012444.3
p.Q208Q
c.624A>G
6 papers
NM_012444.3
p.R211W
c.631C>T
1 paper
NM_012444.3
p.S167R
c.501T>G
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