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

10 papers

NM_001282717.2

p.Y650fs

c.1948_1949fs

Surrounding Variants

1 paper

NM_001282717.2

p.Y650fs

c.1948_1949fs

1 paper

NM_001282717.2

p.Y650S

c.1949A>C

10 papers

NM_001282717.2

p.Y650*

c.1950C>A

8 papers

NM_001282717.2

p.Y650*

c.1950C>G

7 papers

NM_001282717.2

p.L651del1

c.1951_1953delCTG

2 papers

NM_001282717.2

p.L649_C653delFs

c.1946_1958del13

4 papers

NM_001282717.2

p.L649_Y650insFs

c.1947_1948dupCT

1 paper

NM_001282717.2

p.Y650_L652del0

c.1948_1956del9

7 papers

NM_001282717.2

p.L652del1

c.1954_1955delCTC

7 papers

NM_001282717.2

p.A648T

c.1942G>A

1 paper

NM_001282717.2

p.C653C

c.1959T>C

1 paper

NM_001282717.2

p.A646fs

c.1936_1937fs