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.D226_A227delFs

c.678_681del4

Surrounding Variants

1 paper

NM_012444.3

p.E224Q

c.670G>C

1 paper

NM_012444.3

p.C238R

c.712T>C

1 paper

NM_012444.3

p.K240_L241delFs

c.720_723del4

1 paper

NM_012444.3

p.P243A

c.727C>G

1 paper

NM_012444.3

p.T248T

c.744G>A

6 papers

NM_012444.3

p.R211W

c.631C>T

1 paper

NM_012444.3

p.Q208Q

c.624A>G

1 paper

NM_012444.3

p.S205L

c.614C>T

1 paper

NM_012444.3

p.P204S

c.610C>T

1 paper

NM_012444.3

p.T199_A200Splc

c.597+1G>T

1 paper

NM_012444.3

p.N193K

c.579T>A

1 paper

NM_012444.3

p.N193K

c.579T>G