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

1–12 of 77 variants

8 papers

NM_001048205.2

p.R31C

c.91C>T

4 papers

NM_001048205.2

p.R300L

c.899G>T

3 papers

NM_001048205.2

p.M110T

c.329T>C

3 papers

NM_001048205.2

p.Q154R

c.461A>G

3 papers

NM_001048205.2

p.E228del1

c.682_684delGAA

3 papers

NM_001048205.2

p.P345_A346insFs

c.1035_1036dupTG

2 papers

NM_001048205.2

p.E208_G209Splc

c.624+1G>A

2 papers

NM_001048205.2

p.E227_E228ins1

c.681_682insGAA

2 papers

NM_001048205.2

p.P291L

c.872C>T

2 papers

NM_001048205.2

p.T353P

c.1057A>C

2 papers

NM_001048205.2

p.L517L

c.1549C>T

1 paper

NM_001048205.2

p.P5P

c.15C>A