Varaico: Literature-Extracted Genetic Variants

Gene:STAG3
Variant:p.R321H

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
10 papers
NM_001282717.2
p.R321H
c.962G>A
Surrounding Variants
1 paper
NM_001282717.2
p.R321C
c.961C>T
1 paper
NM_001282717.2
p.P318A
c.952C>G
1 paper
NM_001282717.2
p.E326G
c.977A>G
1 paper
NM_001282717.2
p.E327Q
c.979G>C
1 paper
NM_001282717.2
p.D315_V316delFs
c.945_948del4
1 paper
NM_001282717.2
p.R314Splc
c.942-3T>G
1 paper
NM_001282717.2
p.L345L
c.1035A>G
1 paper
NM_001282717.2
p.I348S
c.1043T>G
1 paper
NM_001282718.2
p.T293_H295del0
c.877_885del9
1 paper
NM_001282717.2
p.K355_H356Splc
c.1065+1G>C
1 paper
NM_001282717.2
p.K355_H356Splc
c.1066-186C>G
2 papers
NM_001282717.2
p.K355_H356Splc
c.1066-173G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."