Varaico: Literature-Extracted Genetic Variants

Gene:DOCK9
Variant:p.A247G

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
2 papers
NM_001366683.2
p.A247G
c.740C>G
Surrounding Variants
1 paper
NM_001366683.2
p.V243L
c.727G>C
1 paper
NM_001366683.2
p.N240D
c.718A>G
1 paper
NM_001366683.2
p.K255Q
c.763A>C
1 paper
NM_001366683.2
p.S256R
c.766A>C
1 paper
NM_001366683.2
p.E269_E270delFs
c.805_808del4
1 paper
NM_001366683.2
p.A286S
c.856G>T
1 paper
NM_015296.3
p.D300Y
c.898G>T
1 paper
NM_001366683.2
p.E300*
c.898G>T
1 paper
NM_001366683.2
p.K320_S321Splc
c.960+1G>A
3 papers
NM_015296.3
p.Q240_N241Splc
c.720+43A>G
NM_001366683.2
p.Q239_N240Splc
c.717+43A>G
1 paper
NM_001366683.2
p.V238I
c.712G>A
1 paper
NM_001366683.2
p.K223R
c.668A>G
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