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

Selected Variant

2 papers

NM_033547.4

p.T162M

c.485C>T

Surrounding Variants

1 paper

NM_033547.4

p.T160P

c.478A>C

1 paper

NM_033547.4

p.L173S

c.518T>C

1 paper

NM_033547.4

p.G175A

c.524G>C

1 paper

NM_033547.4

p.K157_H158Splc

c.472-28T>C

1 paper

NM_033547.4

p.K198Q

c.592A>C

1 paper

NM_033547.4

p.K217E

c.649A>G

1 paper

NM_033547.4

p.Q236_A237Splc

c.708+62C>G

1 paper

NM_033547.4

p.Y245insFs

c.734dupA

1 paper

NM_033547.4

p.P264A

c.790C>G

1 paper

NM_033547.4

p.S266Splc

c.797+3C>T

1 paper

NM_033547.4

p.R278H

c.833G>A

1 paper

NM_033547.4

p.W296R

c.886T>C