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.I4V

c.10A>G

Surrounding Variants

1 paper

NM_001256456.2

p.G18S

c.52G>A

1 paper

NM_017871.6

p.G12D

c.35G>A

5 papers

NM_017871.6

p.R17L

c.50G>T

NM_001256456.2

p.R23L

c.68G>T

1 paper

NM_017871.6

p.G38V

c.113G>T

2 papers

NM_017871.6

p.F39S

c.116T>C

NM_001256456.2

p.F45S

c.134T>C

1 paper

NM_017871.6

p.T52N

c.155C>A

3 papers

NM_017871.6

p.G55S

c.163G>A

NM_001256456.2

p.G61S

c.181G>A

1 paper

NM_017871.6

p.G55A

c.164G>C

1 paper

NM_017871.6

p.D59D

c.177C>T

1 paper

NM_017871.6

p.F69L

c.205T>C

1 paper

NM_017871.6

p.G75_A76delFs

c.224_227del4

1 paper

NM_017871.6

p.F80Y

c.239T>A