Varaico: Literature-Extracted Genetic Variants

INTS8

73 papers

RefSeq Summary

This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is...

Pfam Domains

TPR_INTS8_3aa 21–310UCSCIntegrator complex subunit 8, TPR repeats

TPR_INTS8_2aa 314–485UCSCIntegrator complex subunit 8, TPR repeats

TPR_INTS8aa 506–994UCSCINTS8, TPR repeats

Gene Aliases

HGNC Name

integrator complex subunit 8

HGNC Previous Symbol

C8orf52

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017864.4

p.P325L

c.974C>T

Surrounding Variants

1 paper

NM_017864.4

p.P325del1

c.973_975delCCA

1 paper

NM_017864.4

p.Q339_E340Splc

c.1017+1G>A

3 papers

NM_017864.4

p.D298G

c.893A>G

1 paper

NM_017864.4

p.E287_I288Splc

c.862-54G>C

1 paper

NM_017864.4

p.Q339_E340Splc

c.1018-2A>G

1 paper

NM_017864.4

p.I346V

c.1036A>G

1 paper

NM_017864.4

p.Q357E

c.1069C>G

1 paper

NM_017864.4

p.Q371P

c.1112A>C

1 paper

NM_017864.4

p.G373Splc

c.1118+1G>T

1 paper

NM_017864.4

p.G373Splc

c.1119-5T>A

1 paper

NM_017864.4

p.E413E

c.1239G>A

1 paper

NM_017864.4

p.L419F

c.1255C>T