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

1–12 of 294 variants

7 papers

NM_001080453.3

p.R77C

c.229C>T

6 papers

NM_001080453.3

p.G52S

c.154G>A

4 papers

NM_001080453.3

p.S1784*

c.5351C>G

4 papers

NM_001080453.3

p.S1784*

c.5351C>A

4 papers

NM_001080453.3

p.R1800insFs

c.5398dupC

3 papers

NM_001080453.3

p.D124E

c.372T>G

3 papers

NM_001080453.3

p.D124E

c.372T>A

3 papers

NM_001080453.3

p.D135N

c.403G>A

3 papers

NM_001080453.3

p.R500W

c.1498C>T

3 papers

NM_001080453.3

p.C516S

c.1546T>A

3 papers

NM_001080453.3

p.C516S

c.1547G>C

3 papers

NM_001080453.3

p.M549V

c.1645A>G