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.D835E

c.2505T>G

Surrounding Variants

1 paper

NM_005862.3

p.D835E

c.2505T>A

1 paper

NM_005862.3

p.D835Y

c.2503G>T

1 paper

NM_005862.3

p.S827delFs

c.2479_2480delGA

1 paper

NM_005862.3

p.Q826*

c.2476C>T

1 paper

NM_005862.3

p.F819F

c.2457C>T

1 paper

NM_005862.3

p.R811*

c.2431A>T

1 paper

NM_005862.3

p.G809C

c.2425G>T

1 paper

NM_005862.3

p.F802_H804del3

c.2404_2411del9

1 paper

NM_005862.3

p.H804Y

c.2410C>T

1 paper

NM_005862.3

p.F802Y

c.2405T>A

1 paper

NM_005862.3

p.L798insFs

c.2394dupT

1 paper

NM_005862.3

p.D797G

c.2390A>G