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.G73D

c.218G>A

Surrounding Variants

1 paper

NM_001080453.3

p.G73_L74insFs

c.219_220insC

7 papers

NM_001080453.3

p.R77C

c.229C>T

1 paper

NM_001080453.3

p.A64V

c.191C>T

1 paper

NM_001080453.3

p.A61V

c.182C>T

1 paper

NM_001080453.3

p.D60N

c.178G>A

1 paper

NM_001080453.3

p.R57G

c.169C>G

6 papers

NM_001080453.3

p.G52S

c.154G>A

1 paper

NM_001080453.3

p.A49_S51delFs

c.147_153del7

1 paper

NM_001080453.3

p.S51F

c.152C>T

1 paper

NM_001080453.3

p.V97E

c.290T>A

1 paper

NM_001080453.3

p.A49V

c.146C>T

1 paper

NM_001080453.3

p.P48S

c.142C>T