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.P451delFs

c.1351delC

Surrounding Variants

1 paper

NM_001048205.2

p.E426K

c.1276G>A

1 paper

NM_001048205.2

p.P496S

c.1486C>T

1 paper

NM_001048205.2

p.L421R

c.1262T>G

1 paper

NM_001048205.2

p.A511T

c.1531G>A

2 papers

NM_001048205.2

p.L517L

c.1549C>T

1 paper

NM_001048205.2

p.M414T

c.1241T>C

1 paper

NM_001048205.2

p.A385V

c.1154C>T

1 paper

NM_001048205.2

p.E383Q

c.1147G>C

1 paper

NM_001048205.2

p.E380_L381delFs

c.1140_1143del4

1 paper

NM_001048205.2

p.L377F

c.1129C>T

1 paper

NM_001048205.2

p.A376delFs

c.1126delG

1 paper

NM_001048205.2

p.P372L

c.1115C>T