Varaico: Literature-Extracted Genetic Variants

INTS11

66 papers

RefSeq Summary

The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small ...

Pfam Domains

Lactamase_B_6aa 21–205UCSCMetallo-beta-lactamase superfamily domain

Beta-Caspaa 245–363UCSCBeta-Casp domain

RMMBLaa 377–438UCSCZn-dependent metallo-hydrolase RNA specificity domain

IntS11_Caa 500–591UCSCIntegrator IntS11, C-terminal domain

Gene Aliases

HGNC Name

integrator complex subunit 11

HGNC Previous Symbol

CPSF3L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 94 variants

8 papers

NM_017871.6

p.E203Q

c.607G>C

4 papers

NM_017871.6

p.R17L

c.50G>T

3 papers

NM_017871.6

p.K462E

c.1384A>G

2 papers

NM_017871.6

p.G55S

c.163G>A

2 papers

NM_017871.6

p.G88G

c.264G>C

2 papers

NM_017871.6

p.L138F

c.412C>T

2 papers

NM_017871.6

p.D193D

c.579C>T

2 papers

NM_017871.6

p.R196R

c.588C>T

2 papers

NM_017871.6

p.R217W

c.649C>T

2 papers

NM_017871.6

p.K396E

c.1186A>G

2 papers

NM_017871.6

p.L469L

c.1405C>T

1 paper

NM_017871.6

p.I4V

c.10A>G