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.K522delFs

c.1564delT

Surrounding Variants

1 paper

NM_001256456.2

p.R527fs

c.1579_1580fs

1 paper

NM_001256456.2

p.V521M

c.1561G>A

1 paper

NM_017871.6

p.R510P

c.1529G>C

1 paper

NM_017871.6

p.E496K

c.1486G>A

1 paper

NM_017871.6

p.V493M

c.1477G>A

1 paper

NM_017871.6

p.S536R

c.1606A>C

1 paper

NM_017871.6

p.S536R

c.1608C>G

1 paper

NM_017871.6

p.S536R

c.1608C>A

1 paper

NM_017871.6

p.P547P

c.1641A>G

1 paper

NM_001256456.2

p.V557E

c.1670T>A

1 paper

NM_001256456.2

p.S494_N495Splc

c.1482+3G>C

1 paper

NM_017871.6

p.T482I

c.1445C>T