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

Selected Variant

1 paper

NM_017871.6

p.R244R

c.732C>A

Surrounding Variants

1 paper

NM_017871.6

p.E247K

c.739G>A

1 paper

NM_017871.6

p.I265I

c.795C>T

1 paper

NM_017871.6

p.K224_E227del4

c.670_680del12

1 paper

NM_017871.6

p.F294F

c.882C>T

1 paper

NM_017871.6

p.F294delFs

c.881_882delGA

2 papers

NM_017871.6

p.R219Q

c.656G>A

NM_001256456.2

p.R225Q

c.674G>A

1 paper

NM_017871.6

p.R219*

c.655C>T

1 paper

NM_001256456.2

p.E224G

c.671A>G

1 paper

NM_017871.6

p.N298S

c.893A>G

3 papers

NM_017871.6

p.R217W

c.649C>T

NM_001256456.2

p.R223W

c.667C>T

1 paper

NM_017871.6

p.I210T

c.629T>C

1 paper

NM_017871.6

p.I305I

c.915C>T