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.F174L

c.520T>C

Surrounding Variants

1 paper

NM_005862.3

p.F174L

c.522T>G

1 paper

NM_005862.3

p.F174L

c.522T>A

1 paper

NM_005862.3

p.R175H

c.524G>A

1 paper

NM_005862.3

p.F178I

c.532T>A

2 papers

NM_005862.3

p.P167insFs

c.500dupC

1 paper

NM_005862.3

p.T165A

c.493A>G

1 paper

NM_005862.3

p.L164F

c.490C>T

1 paper

NM_005862.3

p.D158N

c.472G>A

1 paper

NM_005862.3

p.Y195fs

c.583_584fs

1 paper

NM_005862.3

p.T202P

c.604A>C

1 paper

NM_005862.3

p.I204V

c.610A>G

1 paper

NM_005862.3

p.G209C

c.625G>T