Varaico: Literature-Extracted Genetic Variants

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

1–12 of 77 variants

2 papers

NM_033547.4

p.T162M

c.485C>T

2 papers

NM_033547.4

p.K698T

c.2093A>C

2 papers

NM_033547.4

p.Y897S

c.2690A>C

1 paper

NM_033547.4

p.P19S

c.55C>T

1 paper

NM_033547.4

p.Q20*

c.58C>T

1 paper

NM_033547.4

p.Q20P

c.59A>C

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