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.I924fs

c.2770_2771fs

Surrounding Variants

1 paper

NM_005862.3

p.L923delFs

c.2768_2769delGA

5 papers

NM_005862.3

p.L923_I924delFs

c.2769_2770delTG

1 paper

NM_005862.3

p.A920S

c.2758G>T

1 paper

NM_005862.3

p.Q918H

c.2754G>T

1 paper

NM_005862.3

p.Q918H

c.2754G>C

1 paper

NM_005862.3

p.I917S

c.2750T>G

1 paper

NM_005862.3

p.Q913R

c.2738A>G

1 paper

NM_005862.3

p.T907fs

c.2719_2720fs

1 paper

NM_005862.3

p.K891T

c.2672A>C

1 paper

NM_005862.3

p.D879Y

c.2635G>T

1 paper

NM_005862.3

p.I877F

c.2629A>T

1 paper

NM_005862.3

p.K874R

c.2621A>G