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.M777T

c.2330T>C

Surrounding Variants

1 paper

NM_001282717.2

p.R776K

c.2327G>A

1 paper

NM_001282717.2

p.C784S

c.2350T>A

1 paper

NM_001282717.2

p.C784S

c.2351G>C

2 papers

NM_001282717.2

p.K768_Q769delFs

c.2303_2306del4

1 paper

NM_001282717.2

p.T793P

c.2377A>C

2 papers

NM_001282717.2

p.I795T

c.2384T>C

1 paper

NM_001282717.2

p.Q798E

c.2392C>G

11 papers

NM_001282717.2

p.Q798_A799Splc

c.2394+1G>A

1 paper

NM_001282717.2

p.Q767_K768Splc

c.2301+2T>G

1 paper

NM_001282717.2

p.L757P

c.2270T>C

1 paper

NM_001282717.2

p.L748P

c.2243T>C

2 papers

NM_001282717.2

p.T747N

c.2240C>A