Varaico: Literature-Extracted Genetic Variants

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.E46D

c.138G>C

Surrounding Variants

1 paper

NM_012444.3

p.S45_E46delFs

c.135_136delTG

1 paper

NM_012444.3

p.I55V

c.163A>G

1 paper

NM_012444.3

p.R75_N80insFs

c.224_240dup17

1 paper

NM_012444.3

p.R75R

c.225A>G

1 paper

NM_012444.3

p.S76S

c.228A>G

1 paper

NM_012444.3

p.N80N

c.240C>T

1 paper

NM_012444.3

p.K82fs

c.244_245fs

1 paper

NM_012444.3

p.S44Splc

c.132-1247C>T

1 paper

NM_012444.3

p.S86delFs

c.257_258delCT

1 paper

NM_012444.3

p.G88S

c.262G>A

1 paper

NM_012444.3

p.T97delFs

c.289_290delAC

1 paper

NM_012444.3

p.K99delFs

c.295_296delAA