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.K979R

c.2936A>G

Surrounding Variants

1 paper

NM_005862.3

p.K979Splc

c.2937-2A>G

1 paper

NM_005862.3

p.D980N

c.2938G>A

1 paper

NM_005862.3

p.L1001fs

c.3001_3002fs

1 paper

NM_005862.3

p.L1001delFs

c.3002delA

4 papers

NM_005862.3

p.K979R

c.2936A>G

1 paper

NM_005862.3

p.A975G

c.2924C>G

1 paper

NM_005862.3

p.D966_Q967delFs

c.2898_2899delGG

1 paper

NM_005862.3

p.L961R

c.2882T>G

1 paper

NM_005862.3

p.R958H

c.2873G>A

1 paper

NM_005862.3

p.R957H

c.2870G>A

1 paper

NM_005862.3

p.G951_I952delFs

c.2853_2856del4

1 paper

NM_005862.3

p.N941K

c.2823C>G