Varaico: Literature-Extracted Genetic Variants

Gene:INTS7
Variant:p.R940C

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_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
2 papers
NM_015434.4
p.R940C
c.2818C>T
Surrounding Variants
1 paper
NM_015434.4
p.D933N
c.2797G>A
1 paper
NM_015434.4
p.F962C
c.2885T>G
1 paper
NM_015434.4
p.N875H
c.2623A>C
1 paper
NM_015434.4
p.S856F
c.2567C>T
1 paper
NM_015434.4
p.R845C
c.2533C>T
1 paper
NM_015434.4
p.I782insFs
c.2345dupT
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