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.Q740_V741Splc

c.2220+211A>G

Surrounding Variants

1 paper

NM_001282717.2

p.V741F

c.2221G>T

1 paper

NM_001282717.2

p.E736delFs

c.2206delG

1 paper

NM_001282717.2

p.V732M

c.2194G>A

2 papers

NM_001282717.2

p.T747N

c.2240C>A

1 paper

NM_001282717.2

p.Q729H

c.2187G>T

1 paper

NM_001282717.2

p.L748P

c.2243T>C

1 paper

NM_001282717.2

p.L757P

c.2270T>C

1 paper

NM_001282717.2

p.L720_P723del4

c.2158_2168del12

1 paper

NM_001282717.2

p.T712I

c.2135C>T

1 paper

NM_001282717.2

p.Q767_K768Splc

c.2301+2T>G

1 paper

NM_001282717.2

p.N711Splc

c.2133-36C>A

2 papers

NM_001282717.2

p.K768_Q769delFs

c.2303_2306del4