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.R124R

c.370C>A

Surrounding Variants

1 paper

NM_015434.4

p.K105_I111del7

c.313_332del21

1 paper

NM_015434.4

p.K105_I111del0

c.314_331del18

3 papers

NM_015434.4

p.R106I

c.317G>T

1 paper

NM_015434.4

p.L68_F72delFs

c.204_214del11

1 paper

NM_015434.4

p.L68fs

c.202_203fs

1 paper

NM_015434.4

p.G39S

c.115G>A

1 paper

NM_015434.4

p.S35_K37delFs

c.105_111del7

1 paper

NM_015434.4

p.G32G

c.96C>A

1 paper

NM_015434.4

p.S146T

c.437G>C