Varaico: Literature-Extracted Genetic Variants

STAG1

277 papers

RefSeq Summary

This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of ...

Pfam Domains

STAGaa 160–273UCSCSTAG domain

SCDaa 301–375UCSCStromalin conservative domain

HEAT_SCC3-SAaa 483–747UCSCCohesin subunit SCC3/SA, HEAT-repeats domain

Gene Aliases

HGNC Name

STAG1 cohesin complex component

HGNC Alias Symbols

SA-1; SCC3A; SA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005862.3

p.K874R

c.2621A>G

Surrounding Variants

1 paper

NM_005862.3

p.I877F

c.2629A>T

1 paper

NM_005862.3

p.D879Y

c.2635G>T

1 paper

NM_005862.3

p.K891T

c.2672A>C

1 paper

NM_005862.3

p.D851N

c.2551G>A

1 paper

NM_005862.3

p.E849delFs

c.2547delC

1 paper

NM_005862.3

p.G850D

c.2549G>A

1 paper

NM_005862.3

p.D835E

c.2505T>G

1 paper

NM_005862.3

p.D835E

c.2505T>A

1 paper

NM_005862.3

p.D835Y

c.2503G>T

1 paper

NM_005862.3

p.S827delFs

c.2479_2480delGA

1 paper

NM_005862.3

p.Q826*

c.2476C>T

1 paper

NM_005862.3

p.F819F

c.2457C>T