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.T712I

c.2135C>T

Surrounding Variants

1 paper

NM_001282717.2

p.L720_P723del4

c.2158_2168del12

1 paper

NM_001282717.2

p.N711Splc

c.2133-36C>A

1 paper

NM_001282717.2

p.Q729H

c.2187G>T

1 paper

NM_001282717.2

p.V732M

c.2194G>A

1 paper

NM_001282717.2

p.E736delFs

c.2206delG

1 paper

NM_001282717.2

p.Y710*

c.2130C>A

1 paper

NM_001282717.2

p.Y710*

c.2130C>G

2 papers

NM_001282718.2

p.A650A

c.1950C>A

1 paper

NM_001282718.2

p.F651del1

c.1951_1953delTTC

1 paper

NM_001282717.2

p.A701P

c.2101G>C

1 paper

NM_001282717.2

p.L699P

c.2096T>C

2 papers

NM_001282717.2

p.E695*

c.2083G>T