Varaico: Literature-Extracted Genetic Variants

Gene:INTS6
Variant:p.M382R

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.M382R
c.1145T>G
Surrounding Variants
1 paper
NM_012141.3
p.W348*
c.1044G>A
1 paper
NM_012141.3
p.W348*
c.1043G>A
1 paper
NM_012141.3
p.P344S
c.1030C>T
1 paper
NM_012141.3
p.S332L
c.995C>T
1 paper
NM_012141.3
p.K326*
c.976A>T
1 paper
NM_012141.3
p.P323fs
c.967_968fs
1 paper
NM_012141.3
p.H304Y
c.910C>T
1 paper
NM_012141.3
p.K398*
c.1192A>T
1 paper
NM_012141.3
p.H400R
c.1199A>G
2 papers
NM_012141.3
p.T405T
c.1215A>C
1 paper
NM_012141.3
p.W408*
c.1223G>A
1 paper
NM_012141.3
p.W408*
c.1224G>A
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