Varaico: Literature-Extracted Genetic Variants

Gene:INTS6
Variant:p.E143K

INTS6

85 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that intera...

Pfam Domains

VWA_2aa 4–133UCSCvon Willebrand factor type A domain
VWA_2aa 4–133UCSCvon Willebrand factor type A domain
Beta-barrel_INTS6aa 252–398UCSCINTS6 beta-barrel domain
INT_SG_DDX_CT_Caa 807–869UCSCINTS6/SAGE1/DDX26B/CT45 C-terminus

Gene Aliases

HGNC Name

integrator complex subunit 6

HGNC Previous Symbol

DDX26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012141.3
p.E143K
c.427G>A
Surrounding Variants
2 papers
NM_012141.3
p.T137I
c.410C>T
1 paper
NM_012141.3
p.T137_S138insT
c.409_413ins3
1 paper
NM_012141.3
p.P122S
c.364C>T
1 paper
NM_012141.3
p.Q113_G114Splc
c.340-3T>C
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