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.A230T

c.688G>A

Surrounding Variants

1 paper

NM_001282717.2

p.F231_H233del0

c.691_699del9

1 paper

NM_001282717.2

p.R232C

c.694C>T

1 paper

NM_001282717.2

p.H233L

c.698A>T

2 papers

NM_001282717.2

p.S226*

c.677C>A

7 papers

NM_001282717.2

p.S226*

c.677C>G

1 paper

NM_001282717.2

p.S226_Q227delFs

c.678_681del4

1 paper

NM_001282717.2

p.S226insFs

c.676dupT

1 paper

NM_001282717.2

p.S235G

c.703A>G

1 paper

NM_001282717.2

p.S224delFs

c.670delT

1 paper

NM_001282717.2

p.G222delFs

c.666delC

1 paper

NM_001282717.2

p.L220P

c.659T>C

10 papers

NM_001282717.2

p.L220R

c.659T>G