Varaico: Literature-Extracted Genetic Variants

STAG1

277 papers

RefSeq Summary

This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of ...

Pfam Domains

STAGaa 160–273UCSCSTAG domain

SCDaa 301–375UCSCStromalin conservative domain

HEAT_SCC3-SAaa 483–747UCSCCohesin subunit SCC3/SA, HEAT-repeats domain

Gene Aliases

HGNC Name

STAG1 cohesin complex component

HGNC Alias Symbols

SA-1; SCC3A; SA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005862.3

p.R301Splc

c.903-10C>A

Surrounding Variants

3 papers

NM_005862.3

p.R301C

c.901C>T

1 paper

NM_005862.3

p.A303G

c.908C>G

1 paper

NM_005862.3

p.A305A

c.915T>G

1 paper

NM_005862.3

p.Y322*

c.966T>G

1 paper

NM_005862.3

p.Y322*

c.966T>A

1 paper

NM_005862.3

p.A325V

c.974C>T

1 paper

NM_005862.3

p.F326S

c.977T>C

5 papers

NM_005862.3

p.K333Q

c.997A>C

1 paper

NM_005862.3

p.K333insFs

c.997dupA

1 paper

NM_005862.3

p.W337*

c.1010G>A

1 paper

NM_005862.3

p.W337*

c.1011G>A

1 paper

NM_005862.3

p.R342_Q343insFs

c.1026_1027insG