Varaico: Literature-Extracted Genetic Variants

STAG3

159 papers

RefSeq Summary

The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is ...

Pfam Domains

STAGaa 173–286UCSCSTAG domain

SCDaa 314–388UCSCStromalin conservative domain

HEAT_SCC3-SAaa 496–755UCSCCohesin subunit SCC3/SA, HEAT-repeats domain

Gene Aliases

HGNC Name

STAG3 cohesin complex component

HGNC Alias Symbol

SA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001282717.2

p.V429_Y430del1

c.1286_1288delTCT

Surrounding Variants

2 papers

NM_001282717.2

p.P431P

c.1293A>C

1 paper

NM_001282717.2

p.Y434_S442del9

c.1300_1325del27

1 paper

NM_001282717.2

p.D423D

c.1269C>T

1 paper

NM_001282717.2

p.D423A

c.1268A>C

1 paper

NM_001282717.2

p.A435delFs

c.1303_1304delGC

11 papers

NM_001282717.2

p.L421R

c.1262T>G

10 papers

NM_001282717.2

p.R438*

c.1312C>T

1 paper

NM_001282717.2

p.E418insFs

c.1254dupA

1 paper

NM_001282717.2

p.G445D

c.1334G>A

3 papers

NM_001282717.2

p.E446*

c.1336G>T

1 paper

NM_001282717.2

p.K451delFs

c.1351delA

2 papers

NM_001282717.2

p.K415Splc

c.1245-26T>C