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.P447P

c.1341C>T

Surrounding Variants

1 paper

NM_001256456.2

p.S457_P459del3

c.1369_1376del9

1 paper

NM_017871.6

p.C435*

c.1305C>A

1 paper

NM_017871.6

p.S457_G459del3

c.1369_1376del9

3 papers

NM_017871.6

p.K462E

c.1384A>G

2 papers

NM_017871.6

p.R432Splc

c.1295-9G>A

NM_001256456.2

p.R438Splc

c.1313-9G>A

2 papers

NM_017871.6

p.L469L

c.1405C>T

2 papers

NM_001256456.2

p.H420Y

c.1258C>T

NM_017871.6

p.H414Y

c.1240C>T

1 paper

NM_017871.6

p.H480P

c.1439A>C

1 paper

NM_017871.6

p.L412V

c.1234C>G

1 paper

NM_017871.6

p.T482I

c.1445C>T

1 paper

NM_001256456.2

p.P413S

c.1237C>T

1 paper

NM_001256456.2

p.S494_N495Splc

c.1482+3G>C