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.N61S

c.182A>G

Surrounding Variants

1 paper

NM_018250.4

p.P47fs

c.139_140fs

1 paper

NM_018250.4

p.P47L

c.140C>T

1 paper

NM_018250.4

p.K69N

c.207G>C

1 paper

NM_018250.4

p.P81R

c.242C>G

1 paper

NM_018250.4

p.D31N

c.91G>A

1 paper

NM_018250.4

p.T23I

c.68C>T

1 paper

NM_018250.4

p.S21insFs

c.63dupA

1 paper

NM_018250.4

p.S7P

c.19T>C