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.P5P

c.15C>A

Surrounding Variants

1 paper

NM_001048205.2

p.V7A

c.20T>C

1 paper

NM_001048205.2

p.G13D

c.38G>A

1 paper

NM_001048205.2

p.A16V

c.47C>T

1 paper

NM_001048205.2

p.A21V

c.62C>T

1 paper

NM_001048205.2

p.G25S

c.73G>A

1 paper

NM_001048205.2

p.R27G

c.79C>G

8 papers

NM_001048205.2

p.R31C

c.91C>T

1 paper

NM_001048205.2

p.R35W

c.103A>T

1 paper

NM_001048205.2

p.N37S

c.110A>G

1 paper

NM_001048205.2

p.I45_L46delFs

c.135_136delCC

1 paper

NM_001048205.2

p.G59R

c.175G>C

1 paper

NM_001048205.2

p.R64S

c.190C>A