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.P455T

c.1363C>A

Surrounding Variants

1 paper

NM_001282717.2

p.Y454*

c.1362C>A

1 paper

NM_001282717.2

p.Y454*

c.1362C>G

1 paper

NM_001282717.2

p.L452F

c.1354C>T

1 paper

NM_001282717.2

p.Q467*

c.1399C>T

2 papers

NM_001282717.2

p.R468C

c.1402C>T

1 paper

NM_001282717.2

p.G472S

c.1414G>A

1 paper

NM_001282717.2

p.Q479fs

c.1435_1436fs

1 paper

NM_001282717.2

p.Q479_L482delFs

c.1437_1446del10

1 paper

NM_001282717.2

p.E489_L490Splc

c.1467+3G>A

1 paper

NM_001282717.2

p.K451delFs

c.1351delA

3 papers

NM_001282717.2

p.E446*

c.1336G>T

1 paper

NM_001282717.2

p.G445D

c.1334G>A