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

5 papers

NM_005862.3

p.H478P

c.1433A>C

Surrounding Variants

3 papers

NM_005862.3

p.S487_L488insFs

c.1460_1464dup5

3 papers

NM_005862.3

p.W489fs

c.1465_1466fs

1 paper

NM_005862.3

p.E494insFs

c.1480dupG

1 paper

NM_005862.3

p.E508A

c.1523A>C

1 paper

NM_005862.3

p.E509*

c.1525G>T

1 paper

NM_005862.3

p.V511A

c.1532T>C

1 paper

NM_005862.3

p.E515*

c.1543G>T

1 paper

NM_005862.3

p.R466M

c.1397G>T

1 paper

NM_005862.3

p.I465L

c.1393A>C

1 paper

NM_005862.3

p.S459G

c.1375A>G

1 paper

NM_005862.3

p.E449Q

c.1345G>C

1 paper

NM_005862.3

p.D444N

c.1330G>A