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.D805_P812del8

c.2413_2435del24

Surrounding Variants

1 paper

NM_001282717.2

p.L807I

c.2419C>A

2 papers

NM_001282717.2

p.I815I

c.2445T>A

1 paper

NM_001282717.2

p.Q798_A799Splc

c.2395-20C>T

1 paper

NM_001282717.2

p.P829_A831delFs

c.2487_2491del5

1 paper

NM_001282717.2

p.E830K

c.2488G>A

11 papers

NM_001282717.2

p.Q798_A799Splc

c.2394+1G>A

1 paper

NM_001282717.2

p.S854_G855delFs

c.2562_2563delTG

1 paper

NM_001282717.2

p.Q798E

c.2392C>G

2 papers

NM_001282717.2

p.I795T

c.2384T>C

1 paper

NM_001282717.2

p.T793P

c.2377A>C

1 paper

NM_001282717.2

p.C784S

c.2351G>C

1 paper

NM_001282717.2

p.C784S

c.2350T>A