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.R219delFs

c.655delT

Surrounding Variants

5 papers

NM_005862.3

p.H220R

c.659A>G

2 papers

NM_005862.3

p.R216*

c.646A>T

8 papers

NM_005862.3

p.R216G

c.646A>G

2 papers

NM_005862.3

p.T223S

c.667A>T

2 papers

NM_005862.3

p.T223S

c.668C>G

1 paper

NM_005862.3

p.V215I

c.643G>A

7 papers

NM_005862.3

p.Q214R

c.641A>G

1 paper

NM_005862.3

p.G209C

c.625G>T

1 paper

NM_005862.3

p.I204V

c.610A>G

1 paper

NM_005862.3

p.T202P

c.604A>C

1 paper

NM_005862.3

p.Y195fs

c.583_584fs

1 paper

NM_005862.3

p.F178I

c.532T>A