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.G1056insFs

c.3167dupG

Surrounding Variants

1 paper

NM_005862.3

p.E1057*

c.3169G>T

1 paper

NM_005862.3

p.L1045L

c.3135C>T

1 paper

NM_005862.3

p.W1042*

c.3126G>A

1 paper

NM_005862.3

p.W1042*

c.3125G>A

1 paper

NM_005862.3

p.E1039K

c.3115G>A

1 paper

NM_005862.3

p.R1037G

c.3109A>G

1 paper

NM_005862.3

p.M1035T

c.3104T>C

1 paper

NM_005862.3

p.M1034T

c.3101T>C

1 paper

NM_005862.3

p.R1081*

c.3241C>T

1 paper

NM_005862.3

p.R1081R

c.3243A>G

1 paper

NM_005862.3

p.F1029fs

c.3085_3086fs

13 papers

NM_005862.3

p.H1085Y

c.3253C>T