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.S683T

c.2047T>A

Surrounding Variants

1 paper

NM_015434.4

p.Q673K

c.2017C>A

1 paper

NM_015434.4

p.A654T

c.1960G>A

1 paper

NM_015434.4

p.C638S

c.1913G>C

1 paper

NM_015434.4

p.C638S

c.1912T>A

1 paper

NM_015434.4

p.T605_A606Splc

c.1815+763C>T

1 paper

NM_015434.4

p.Q579H

c.1737A>T

1 paper

NM_015434.4

p.Q579H

c.1737A>C

1 paper

NM_015434.4

p.N563N

c.1689T>C

1 paper

NM_015434.4

p.M536R

c.1607T>G

1 paper

NM_015434.4

p.N522S

c.1565A>G

1 paper

NM_015434.4

p.V496A

c.1487T>C