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.G181G

c.543T>C

Surrounding Variants

1 paper

NM_001282717.2

p.K185E

c.553A>G

14 papers

NM_001282717.2

p.F187fs

c.559_560fs

2 papers

NM_001282717.2

p.Q188delFs

c.562delC

1 paper

NM_001282717.2

p.Q188fs

c.562_563fs

4 papers

NM_001282717.2

p.Q188fs

c.562_563fs

2 papers

NM_001282717.2

p.Q188R

c.563A>G

1 paper

NM_001282717.2

p.S172insFs

c.515_516insA

1 paper

NM_001282718.2

p.Q112_D113Splc

c.337-2A>C

1 paper

NM_001282717.2

p.F194F

c.582T>C

1 paper

NM_001282717.2

p.Q203R

c.608A>G

1 paper

NM_001282717.2

p.Y204_S205del2

c.610_614del6

1 paper

NM_001282717.2

p.S205R

c.613A>C