Varaico: Literature-Extracted Genetic Variants

REC8

70 papers

RefSeq Summary

This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocyt...

Pfam Domains

Rad21_Rec8_Naa 1–116UCSCN terminus of Rad21 / Rec8 like protein

Rad21_Rec8aa 492–546UCSCConserved region of Rad21 / Rec8 like protein

Gene Aliases

HGNC Name

REC8 meiotic recombination protein

HGNC Previous Symbol

REC8L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001048205.2

p.E208_G209Splc

c.624+1G>A

Surrounding Variants

1 paper

NM_001048205.2

p.A199_I202del4

c.595_605del12

1 paper

NM_001048205.2

p.R211W

c.631C>T

1 paper

NM_001048205.2

p.E215*

c.643G>T

1 paper

NM_001048205.2

p.R219Q

c.656G>A

1 paper

NM_001048205.2

p.A226_E227delFs

c.678_681del4

1 paper

NM_001048205.2

p.A226_E227ins1

c.678_679insGAG

1 paper

NM_001048205.2

p.E227E

c.681G>A

2 papers

NM_001048205.2

p.E227_E228ins1

c.681_682insGAA

1 paper

NM_001048205.2

p.E228ins2

c.683_684ins6

3 papers

NM_001048205.2

p.E228del1

c.682_684delGAA

1 paper

NM_001048205.2

p.E230ins1

c.688_689insAAT

1 paper

NM_001048205.2

p.P287delFs

c.860_861delCA