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

3 papers

NM_001080453.3

p.M549V

c.1645A>G

Surrounding Variants

1 paper

NM_001080453.3

p.A555A

c.1665G>A

1 paper

NM_001080453.3

p.H540Q

c.1620C>G

1 paper

NM_001080453.3

p.H540Q

c.1620C>A

1 paper

NM_001080453.3

p.F537fs

c.1609_1610fs

1 paper

NM_001080453.3

p.F537delFs

c.1609delA

1 paper

NM_001080453.3

p.R576C

c.1726C>T

1 paper

NM_001080453.3

p.A589A

c.1767C>T

1 paper

NM_001080453.3

p.V597I

c.1789G>A

1 paper

NM_001080453.3

p.A604T

c.1810G>A

1 paper

NM_001080453.3

p.C611Splc

c.1832+4C>T

1 paper

NM_001080453.3

p.P526L

c.1577C>T

3 papers

NM_001080453.3

p.C516S

c.1547G>C