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

1–12 of 286 variants

13 papers

NM_005862.3

p.H1085Y

c.3253C>T

12 papers

NM_005862.3

p.R373Q

c.1118G>A

8 papers

NM_005862.3

p.R216G

c.646A>G

7 papers

NM_005862.3

p.Q214R

c.641A>G

6 papers

NM_005862.3

p.A116T

c.346G>A

5 papers

NM_005862.3

p.H220R

c.659A>G

5 papers

NM_005862.3

p.K333Q

c.997A>C

5 papers

NM_005862.3

p.L351W

c.1052T>G

5 papers

NM_005862.3

p.H478P

c.1433A>C

5 papers

NM_005862.3

p.I924fs

c.2770_2771fs

5 papers

NM_005862.3

p.L923_I924delFs

c.2769_2770delTG

5 papers

NM_005862.3

p.K979R

c.2936A>G