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

1 paper

NM_001048205.2

p.P287delFs

c.860_861delCA

Surrounding Variants

1 paper

NM_001048205.2

p.P287Q

c.860C>A

1 paper

NM_001048205.2

p.R289_R290del2

c.865_869del6

2 papers

NM_001048205.2

p.P291L

c.872C>T

1 paper

NM_001048205.2

p.P295S

c.883C>T

1 paper

NM_001048205.2

p.R299C

c.895C>T

1 paper

NM_001048205.2

p.R299R

c.897C>T

4 papers

NM_001048205.2

p.R300L

c.899G>T

1 paper

NM_001048205.2

p.R303H

c.908G>A

1 paper

NM_001048205.2

p.S315_P316delFs

c.945_948del4

1 paper

NM_001048205.2

p.P316L

c.947C>T

1 paper

NM_001048205.2

p.E230ins1

c.688_689insAAT

1 paper

NM_001048205.2

p.E227E

c.681G>A