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.L515_T516insA

c.1543_1547ins3

Surrounding Variants

1 paper

NM_001282717.2

p.T516A

c.1546A>G

1 paper

NM_001282717.2

p.E521K

c.1561G>A

2 papers

NM_001282717.2

p.R508Q

c.1523G>A

1 paper

NM_001282717.2

p.Q524fs

c.1570_1571fs

1 paper

NM_001282717.2

p.Q524delFs

c.1571delA

12 papers

NM_001282717.2

p.N525Splc

c.1573+5G>A

1 paper

NM_001282717.2

p.W502*

c.1505G>A

1 paper

NM_001282717.2

p.A495T

c.1483G>A

2 papers

NM_001282717.2

p.N525Splc

c.1573+41C>G

5 papers

NM_001282717.2

p.L490fs

c.1468_1469fs

1 paper

NM_001282717.2

p.E547G

c.1640A>G

7 papers

NM_001282717.2

p.H549_G553delFs

c.1645_1657del13