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.K110E

c.328A>G

Surrounding Variants

6 papers

NM_005862.3

p.A116T

c.346G>A

1 paper

NM_005862.3

p.D119V

c.356A>T

1 paper

NM_005862.3

p.S128*

c.383C>G

1 paper

NM_005862.3

p.S128*

c.383C>A

1 paper

NM_005862.3

p.G129*

c.385G>T

1 paper

NM_005862.3

p.Q99_S100Splc

c.298-44T>G