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

8 papers

NM_001282717.2

p.H293_E295del0

c.877_885del9

Surrounding Variants

1 paper

NM_001282717.2

p.E296E

c.888G>A

6 papers

NM_001282717.2

p.I297_E298insD

c.889_893ins3

6 papers

NM_001282717.2

p.I297_E298ins0

c.891_893dupTGA

1 paper

NM_001282717.2

p.V308I

c.922G>A

1 paper

NM_001282717.2

p.H311Y

c.931C>T

1 paper

NM_001282717.2

p.Y313F

c.938A>T

1 paper

NM_001282717.2

p.Y313Y

c.939C>T

1 paper

NM_001282717.2

p.R314Splc

c.942-3T>G

1 paper

NM_001282717.2

p.D315_V316delFs

c.945_948del4

1 paper

NM_001282717.2

p.P318A

c.952C>G

1 paper

NM_001282717.2

p.R321C

c.961C>T

10 papers

NM_001282717.2

p.R321H

c.962G>A