Varaico: Literature-Extracted Genetic Variants

STAG2

887 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid ...

Pfam Domains

STAGaa 157–270UCSCSTAG domain

SCDaa 298–372UCSCStromalin conservative domain

HEAT_SCC3-SAaa 479–743UCSCCohesin subunit SCC3/SA, HEAT-repeats domain

Gene Aliases

HGNC Name

STAG2 cohesin complex component

HGNC Alias Symbols

SA-2; SCC3B; SA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042750.2

p.R617delFs

c.1849delC

Surrounding Variants

1 paper

NM_001042750.2

p.I616fs

c.1846_1847fs

1 paper

NM_001042750.2

p.I616_R617insFs

c.1848_1849insG

1 paper

NM_001042750.2

p.R617W

c.1849C>T

1 paper

NM_001042750.2

p.R617fs

c.1849_1850fs

1 paper

NM_001042750.2

p.N618fs

c.1852_1853fs

1 paper

NM_001042750.2

p.R614Q

c.1841G>A

38 papers

NM_001042750.2

p.R614*

c.1840C>T

1 paper

NM_001042750.2

p.E621_K622insFs

c.1863_1864ins8

1 paper

NM_001042750.2

p.L613*

c.1838T>A

1 paper

NM_001042750.2

p.L613_I616delFs

c.1838_1848del11

1 paper

NM_001042750.2

p.L612fs

c.1834_1835fs

1 paper

NM_001042750.2

p.L612ins16

c.1834_1835ins48