Varaico: Literature-Extracted Genetic Variants

INTS7

49 papers

RefSeq Summary

This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and...

Pfam Domains

INTS7_Naa 26–538UCSCIntegrator complex subunit 7, N-terminal

INTS7_HBaa 539–720UCSCIntegrator complex subunit 7 helical bundle

INTS7_Caa 805–918UCSCIntegrator complex subunit 7, C-terminal domain

Gene Aliases

HGNC Name

integrator complex subunit 7

HGNC Previous Symbol

C1orf73

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015434.4

p.I273V

c.817A>G

Surrounding Variants

1 paper

NM_015434.4

p.Q252_I253Splc

c.756+2T>A

1 paper

NM_015434.4

p.T223Fs

c.669delinsCTFs

1 paper

NM_015434.4

p.L218F

c.654A>T

1 paper

NM_015434.4

p.M204_A214del11

c.610_641del33

1 paper

NM_015434.4

p.A214V

c.641C>T

1 paper

NM_015434.4

p.L201Fs

c.603delinsCTFs

1 paper

NM_015434.4

p.L201P

c.602T>C