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.F80Y

c.239T>A

Surrounding Variants

1 paper

NM_017871.6

p.G75_A76delFs

c.224_227del4

2 papers

NM_017871.6

p.G88G

c.264G>C

1 paper

NM_017871.6

p.F69L

c.205T>C

1 paper

NM_017871.6

p.D106N

c.316G>A

1 paper

NM_001256460.2

p.A82D

c.245C>A

NM_017871.6

p.A111D

c.332C>A

NM_001256456.2

p.A117D

c.350C>A

1 paper

NM_017871.6

p.K127E

c.379A>G

1 paper

NM_017871.6

p.K131E

c.391A>G

1 paper

NM_017871.6

p.V134V

c.402G>A

1 paper

NM_017871.6

p.H137fs

c.409_410fs

1 paper

NM_017871.6

p.H137delFs

c.410delT

3 papers

NM_017871.6

p.L138F

c.412C>T

NM_001256456.2

p.L144F

c.430C>T

1 paper

NM_017871.6

p.D59D

c.177C>T