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.D124G

c.371A>G

Surrounding Variants

3 papers

NM_001080453.3

p.D124E

c.372T>G

3 papers

NM_001080453.3

p.D124E

c.372T>A

1 paper

NM_001080453.3

p.G133S

c.397G>A

1 paper

NM_001080453.3

p.V117Splc

c.350-8C>T

3 papers

NM_001080453.3

p.D135N

c.403G>A

1 paper

NM_001080453.3

p.D136N

c.406G>A

1 paper

NM_001080453.3

p.V146L

c.436G>T

1 paper

NM_001080453.3

p.V146L

c.436G>C

1 paper

NM_001080453.3

p.V146M

c.436G>A

1 paper

NM_001080453.3

p.K147_R153del0

c.439_459del21

1 paper

NM_001080453.3

p.S163insFs

c.487_488insA

1 paper

NM_001080453.3

p.L167P

c.500T>C