Varaico: Literature-Extracted Genetic Variants

Gene:DOCK9
Variant:p.Q88H

DOCK9

101 papers

Pfam Domains

DOCK_C-D_Naa 46–156UCSCDedicator of cytokinesis C/D, N terminal
PHaa 175–281UCSCPH domain
DOCK-C2aa 636–827UCSCC2 domain in Dock180 and Zizimin proteins
TPR_DOCK9aa 853–1073UCSCDOCK9-like, TPR repeats
DHR-2_Lobe_Aaa 1589–1738UCSCDHR-2, Lobe A
DHR-2_Lobe_Baa 1805–1881UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 9

HGNC Alias Symbols

KIAA1058; ZIZ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366683.2
p.Q88H
c.264G>C
Surrounding Variants
1 paper
NM_001366683.2
p.Q88H
c.264G>T
1 paper
NM_001366683.2
p.R87Q
c.260G>A
1 paper
NM_001366683.2
p.K99K
c.297G>A
1 paper
NM_001366683.2
p.E103D
c.309A>T
1 paper
NM_001366683.2
p.E103D
c.309A>C
2 papers
NM_015296.3
p.A105A
c.315A>G
1 paper
NM_001366683.2
p.F108S
c.323T>C
1 paper
NM_001366683.2
p.S118F
c.353C>T
1 paper
NM_001366683.2
p.N139K
c.417C>G
1 paper
NM_001366683.2
p.K146E
c.436A>G
1 paper
NM_001366683.2
p.D159insFs
c.476_477ins5
1 paper
NM_001366683.2
p.N186S
c.557A>G
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