Varaico: Literature-Extracted Genetic Variants

INTS1

232 papers

RefSeq Summary

INTS1 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

INTS1_RP2B-bdaa 323–478UCSCIntegrator complex subunit 1, RP2B-binding domain

INTS1_INTS2-bdaa 970–1304UCSCIntegrator complex subunit 1, INTS2-binding domain

INT1_R3aa 1835–1994UCSCIntegrator complex subunit 1, R3 domain

INTS1_R4aa 2051–2152UCSCIntegrator complex subunit 1, R4 domain

Gene Aliases

HGNC Name

integrator complex subunit 1

HGNC Alias Symbols

DKFZp586J0619; KIAA1440; INT1; NET28

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001080453.3

p.E692D

c.2076G>T

Surrounding Variants

1 paper

NM_001080453.3

p.E692D

c.2076G>C

1 paper

NM_001080453.3

p.L694Q

c.2081T>A

1 paper

NM_001080453.3

p.N707I

c.2120A>T

1 paper

NM_001080453.3

p.G722Splc

c.2165+9A>G

1 paper

NM_001080453.3

p.E674Q

c.2020G>C

1 paper

NM_001080453.3

p.D671N

c.2011G>A

1 paper

NM_001080453.3

p.G668R

c.2002G>A

1 paper

NM_001080453.3

p.R655H

c.1964G>A

1 paper

NM_001080453.3

p.R655S

c.1963C>A

1 paper

NM_001080453.3

p.T652_L653insC

c.1954_1958ins3

1 paper

NM_001080453.3

p.E650D

c.1950G>T

1 paper

NM_001080453.3

p.E650D

c.1950G>C