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

2 papers

NM_001048205.2

p.T353P

c.1057A>C

Surrounding Variants

1 paper

NM_001048205.2

p.A346fs

c.1036_1037fs

3 papers

NM_001048205.2

p.P345_A346insFs

c.1035_1036dupTG

1 paper

NM_001048205.2

p.L362delFs

c.1085_1086delTA

1 paper

NM_001048205.2

p.Q371insFs

c.1113dupG

1 paper

NM_001048205.2

p.Q371Q

c.1113G>A

1 paper

NM_001048205.2

p.P372S

c.1114C>T

1 paper

NM_001048205.2

p.P372L

c.1115C>T

1 paper

NM_001048205.2

p.A376delFs

c.1126delG

1 paper

NM_001048205.2

p.L377F

c.1129C>T

1 paper

NM_001048205.2

p.E380_L381delFs

c.1140_1143del4

1 paper

NM_001048205.2

p.E383Q

c.1147G>C

1 paper

NM_001048205.2

p.A385V

c.1154C>T