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

1 paper

NM_033547.4

p.S651C

c.1952C>G

Surrounding Variants

1 paper

NM_033547.4

p.L669P

c.2006T>C

1 paper

NM_033547.4

p.L678S

c.2033T>C

1 paper

NM_033547.4

p.L685S

c.2054T>C

1 paper

NM_033547.4

p.A697A

c.2091G>A

2 papers

NM_033547.4

p.K698T

c.2093A>C

1 paper

NM_033547.4

p.R742P

c.2225G>C