Varaico: Literature-Extracted Genetic Variants

Gene:INTS2
Variant:p.L484L

INTS2

89 papers

RefSeq Summary

INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear R...

Pfam Domains

INTS2aa 23–1129UCSCIntegrator complex subunit 2

Gene Aliases

HGNC Name

integrator complex subunit 2

HGNC Previous Symbol

KIAA1287

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001351695.2
p.L484L
c.1452T>A
Surrounding Variants
1 paper
NM_001351695.2
p.I499T
c.1496T>C
1 paper
NM_001351695.2
p.R529R
c.1587G>C
1 paper
NM_001351695.2
p.R554T
c.1661G>C
1 paper
NM_001351695.2
p.I569delFs
c.1707delA
1 paper
NM_001351695.2
p.Q572Q
c.1716G>A
1 paper
NM_001351695.2
p.A416S
c.1246G>T
1 paper
NM_001351695.2
p.T408M
c.1223C>T
1 paper
NM_001351695.2
p.L403L
c.1209A>G
1 paper
NM_001351695.2
p.T658insFs
c.1973_1974insG
1 paper
NM_001351695.2
p.K370R
c.1109A>G
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