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.R1761G

c.5281C>G

Surrounding Variants

2 papers

NM_001080453.3

p.L1764fs

c.5290_5291fs

3 papers

NM_001080453.3

p.L1764delFs

c.5290delG

1 paper

NM_001080453.3

p.A1754T

c.5260G>A

2 papers

NM_001080453.3

p.E1742K

c.5224G>A

4 papers

NM_001080453.3

p.S1784*

c.5351C>G

4 papers

NM_001080453.3

p.S1784*

c.5351C>A

1 paper

NM_001080453.3

p.I1733V

c.5197A>G

1 paper

NM_001080453.3

p.G1791E

c.5372G>A

1 paper

NM_001080453.3

p.K1718*

c.5152A>T

1 paper

NM_001080453.3

p.Q1717_K1718Splc

c.5152-1G>T

2 papers

NM_001080453.3

p.R1714H

c.5141G>A

1 paper

NM_001080453.3

p.W1708L

c.5123G>T