Varaico: Literature-Extracted Genetic Variants

Gene:INTS5
Variant:p.Q423E

INTS5

85 papers

RefSeq Summary

The Integrator complex is a complex that associates with the C-terminal domain of RNA polymerase II large subunit. This complex is brought to U1 and U2 small nuclear RNA genes, where it is involved in...

Pfam Domains

INTS5_Naa 29–252UCSCIntegrator complex subunit 5 N-terminus
INTS5_Caa 290–999UCSCIntegrator complex subunit 5 C-terminus

Gene Aliases

HGNC Name

integrator complex subunit 5

HGNC Previous Symbol

KIAA1698

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030628.2
p.Q423E
c.1267C>G
Surrounding Variants
1 paper
NM_030628.2
p.R432H
c.1295G>A
1 paper
NM_030628.2
p.D412A
c.1235A>C
2 papers
NM_030628.2
p.L444_H445del1
c.1331_1333delGCA
1 paper
NM_030628.2
p.L444_H445del2
c.1330_1334del6
1 paper
NM_030628.2
p.R453W
c.1357C>T
1 paper
NM_030628.2
p.L462P
c.1385T>C
2 papers
NM_030628.2
p.P464S
c.1390C>T
1 paper
NM_030628.2
p.P465A
c.1393C>G
1 paper
NM_030628.2
p.P468L
c.1403C>T
1 paper
NM_030628.2
p.R469C
c.1405C>T
1 paper
NM_030628.2
p.P472L
c.1415C>T
1 paper
NM_030628.2
p.P366P
c.1098A>T
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