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

1–12 of 316 variants

14 papers

NM_001282717.2

p.F187fs

c.559_560fs

12 papers

NM_001282717.2

p.N525Splc

c.1573+5G>A

11 papers

NM_001282717.2

p.L421R

c.1262T>G

11 papers

NM_001282717.2

p.Q798_A799Splc

c.2394+1G>A

10 papers

NM_001282717.2

p.L220R

c.659T>G

10 papers

NM_001282717.2

p.R321H

c.962G>A

10 papers

NM_001282717.2

p.R438*

c.1312C>T

10 papers

NM_001282717.2

p.Y650fs

c.1948_1949fs

10 papers

NM_001282717.2

p.Y650*

c.1950C>A

9 papers

NM_001282717.2

p.A97insFs

c.291dupC

8 papers

NM_001282717.2

p.N98fs

c.292_293fs

8 papers

NM_001282717.2

p.H293_E295del0

c.877_885del9