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.L351W

c.1052T>G

Surrounding Variants

1 paper

NM_005862.3

p.R347K

c.1040G>A

1 paper

NM_005862.3

p.E345K

c.1033G>A

1 paper

NM_005862.3

p.G344E

c.1031G>A

1 paper

NM_005862.3

p.Q343fs

c.1027_1028fs

1 paper

NM_005862.3

p.R342_Q343Splc

c.1027-2A>G

1 paper

NM_005862.3

p.R361*

c.1081A>T

2 papers

NM_005862.3

p.P365S

c.1093C>T

1 paper

NM_005862.3

p.F370_T371delFs

c.1109_1112del4

1 paper

NM_005862.3

p.R373*

c.1117C>T

12 papers

NM_005862.3

p.R373Q

c.1118G>A

4 papers

NM_005862.3

p.R377C

c.1129C>T

1 paper

NM_005862.3

p.M381V

c.1141A>G