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.L67_Y68delFs

c.199_202del4

Surrounding Variants

1 paper

NM_001048205.2

p.L67fs

c.199_200fs

1 paper

NM_001048205.2

p.R64S

c.190C>A

1 paper

NM_001048205.2

p.R64G

c.190C>G

1 paper

NM_001048205.2

p.G59R

c.175G>C

1 paper

NM_001048205.2

p.I75_V80insFs

c.224_240dup17

1 paper

NM_001048205.2

p.I75I

c.225C>T

1 paper

NM_001048205.2

p.G76S

c.226G>A

1 paper

NM_001048205.2

p.V80I

c.238G>A

1 paper

NM_001048205.2

p.Q84*

c.250C>T

1 paper

NM_001048205.2

p.I45_L46delFs

c.135_136delCC

1 paper

NM_001048205.2

p.E90Q

c.268G>C

1 paper

NM_001048205.2

p.E90Splc

c.268+6G>T