Varaico: Literature-Extracted Genetic Variants

Gene:INTS4
Variant:p.S949S

INTS4

93 papers

RefSeq Summary

INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear R...

Pfam Domains

PDS5aa 76–345UCSCSister chromatid cohesion protein PDS5 protein
HEAT_2aa 378–472UCSCHEAT repeats
INTS4_8HBDaa 611–815UCSCINTS4 8 helical bundle domain
INTS4_Caa 823–961UCSCIntegrator subunit 4 family C-terminal Ig-like domain

Gene Aliases

HGNC Name

integrator complex subunit 4

HGNC Alias Symbols

INT4; MGC16733; MST093

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033547.4
p.S949S
c.2847C>T
Surrounding Variants
1 paper
NM_033547.4
p.K953E
c.2857A>G
1 paper
NM_033547.4
p.G944D
c.2831G>A
1 paper
NM_033547.4
p.P960T
c.2878C>A
1 paper
NM_033547.4
p.R963C
c.2887C>T
1 paper
NM_033547.4
p.G932fs
c.2794_2795fs
1 paper
NM_033547.4
p.G931insFs
c.2792dupG
2 papers
NM_033547.4
p.Y897S
c.2690A>C
1 paper
NM_033547.4
p.R891W
c.2671C>T
1 paper
NM_033547.4
p.P885A
c.2653C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."