Varaico: Literature-Extracted Genetic Variants

INTS9

33 papers

RefSeq Summary

This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protei...

Pfam Domains

Lactamase_B_6aa 66–263UCSCMetallo-beta-lactamase superfamily domain

Beta-Caspaa 305–426UCSCBeta-Casp domain

IntS9_Caa 587–657UCSCIntegrator IntS9, C-terminal domain

Gene Aliases

HGNC Name

integrator complex subunit 9

HGNC Alias Symbols

FLJ10871; CPSF2L; RC-74

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018250.4

p.D386G

c.1157A>G

Surrounding Variants

1 paper

NM_018250.4

p.Q389R

c.1166A>G

1 paper

NM_018250.4

p.V420_I421del2

c.1258_1262del6

1 paper

NM_018250.4

p.P447S

c.1339C>T

1 paper

NM_018250.4

p.R451Q

c.1352G>A

1 paper

NM_018250.4

p.V464V

c.1392G>T

1 paper

NM_018250.4

p.Q465Q

c.1395G>A

1 paper

NM_018250.4

p.C492_Q493del2

c.1474_1478del6

2 papers

NM_018250.4

p.K510E

c.1528A>G

1 paper

NM_018250.4

p.Y513Y

c.1539C>T

1 paper

NM_018250.4

p.Q554H

c.1662G>T

1 paper

NM_018250.4

p.Q554H

c.1662G>C