Varaico: Literature-Extracted Genetic Variants

Gene:INTS4
Variant:p.Q20P

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.Q20P
c.59A>C
Surrounding Variants
1 paper
NM_033547.4
p.Q20*
c.58C>T
1 paper
NM_033547.4
p.P19S
c.55C>T
1 paper
NM_033547.4
p.P19_E21del0
c.55_63del9
1 paper
NM_033547.4
p.R29Q
c.86G>A
1 paper
NM_033547.4
p.D42N
c.124G>A
1 paper
NM_033547.4
p.D51N
c.151G>A
1 paper
NM_033547.4
p.A60S
c.178G>T
1 paper
NM_033547.4
p.Y55_P63del9
c.163_188del27
1 paper
NM_033547.4
p.A66V
c.197C>T
1 paper
NM_033547.4
p.P86S
c.256C>T
1 paper
NM_033547.4
p.K91_I92insFs
c.273_274insA
1 paper
NM_033547.4
p.T102I
c.305C>T
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