Varaico: Literature-Extracted Genetic Variants

Gene:INTS2
Variant:p.V82M

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.V82M
c.244G>A
Surrounding Variants
1 paper
NM_001351695.2
p.L80L
c.240G>A
1 paper
NM_001351695.2
p.A78T
c.232G>A
1 paper
NM_001351695.2
p.D90N
c.268G>A
1 paper
NM_001351695.2
p.L62insFs
c.185_186insA
1 paper
NM_001351695.2
p.R98Splc
c.293+21A>C
1 paper
NM_001351695.2
p.L46insFs
c.137_138insT
1 paper
NM_020748.4
p.A53T
c.157G>A
1 paper
NM_001351695.2
p.M44K
c.131T>A
1 paper
NM_001351695.2
p.V42I
c.124G>A
1 paper
NM_001351695.2
p.Q19*
c.55C>T
1 paper
NM_001351695.2
p.Q8Q
c.24G>A
1 paper
NM_001351695.2
p.T5R
c.14C>G
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