Varaico: Literature-Extracted Genetic Variants

STAG3

159 papers

RefSeq Summary

The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is ...

Pfam Domains

STAGaa 173–286UCSCSTAG domain

SCDaa 314–388UCSCStromalin conservative domain

HEAT_SCC3-SAaa 496–755UCSCCohesin subunit SCC3/SA, HEAT-repeats domain

Gene Aliases

HGNC Name

STAG3 cohesin complex component

HGNC Alias Symbol

SA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001282717.2

p.S385N

c.1154G>A

Surrounding Variants

2 papers

NM_001282717.2

p.L380_E381delFs

c.1140_1143del4

2 papers

NM_001282718.2

p.R321H

c.962G>A

1 paper

NM_001282717.2

p.T377P

c.1129A>C

1 paper

NM_001282717.2

p.L376V

c.1126C>G

2 papers

NM_001282717.2

p.L376delFs

c.1126delC

1 paper

NM_001282717.2

p.N373_R374delFs

c.1118_1121del4

1 paper

NM_001282717.2

p.Y371Y

c.1113C>T

2 papers

NM_001282717.2

p.A366delFs

c.1098delC

1 paper

NM_001282717.2

p.K362delFs

c.1085_1086delAG

2 papers

NM_001282717.2

p.R360H

c.1079G>A

1 paper

NM_001282717.2

p.R360C

c.1078C>T

1 paper

NM_001282717.2

p.R357Q

c.1070G>A