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.M381V

c.1141A>G

Surrounding Variants

1 paper

NM_005862.3

p.T382I

c.1145C>T

4 papers

NM_005862.3

p.R377C

c.1129C>T

1 paper

NM_005862.3

p.S380_D384del0

c.1138_1152del15

1 paper

NM_005862.3

p.D388_V389del1

c.1163_1165delCAT

1 paper

NM_005862.3

p.V389V

c.1167T>C

1 paper

NM_005862.3

p.V391L

c.1171G>T

3 papers

NM_005862.3

p.R395*

c.1183C>T

1 paper

NM_005862.3

p.V397L

c.1189G>C

12 papers

NM_005862.3

p.R373Q

c.1118G>A

1 paper

NM_005862.3

p.R373*

c.1117C>T

1 paper

NM_005862.3

p.F370_T371delFs

c.1109_1112del4

2 papers

NM_005862.3

p.P365S

c.1093C>T